| Uniparental Disomy, chromosome 7 | Chromosome 7 paternal uniparental disomy by MS-MLPA | 35 days | LV3902 | +Info |
| Common test of all diseases | Chromosome X inactivation analysis | 28 days | LV0222 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome trio with report of clinicallyrelevant findings | 56 days | LV3245 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome duo with report of clinicallyrelevant findings | 56 days | LV3246 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome reanalysis | Consult | LV4169 | +Info |
| Clinical Exome Sequencing for diagnosis. | Clinical Exome single with report of clinicallyrelevant findings | 56 days | LV3247 | +Info |
| Alagille, type 1 syndrome | Detection of deletions and duplications in the JAG1 gene by MLPA | 28 days | LV2302 | +Info |
| Ehlers-Danlos syndrome type 1 | Detection of deletions and/or duplications in COL5A1 gene by MLPA | 28 days | LV3084 | +Info |
| Mucopolysaccharidosis Type II | Detection of deletions and/or duplications in IDS gene by MLPA | 28 days | LV2513 | +Info |
| Hypercholesterolemia, familial | Detection of deletions and/or duplications in LDLR gene by MLPA | 28 days | LV2464 | +Info |
| Cardiomyopathy, dilated | Detection of deletions and/or duplications in LMNA gene by MLPA | 28 days | LV3919 | +Info |
| Ehlers-Danlos syndrome, type VI | Detection of deletions and/or duplications in PLOD1 gene by MLPA | 28 days | LV3077 | +Info |
| Duane-radial ray syndrome | Detection of deletions and/or duplications in SALL4 gene by MLPA | 28 days | LV3085 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in SDHB gene by MLPA | 28 days | LV2528 | +Info |
| Angioedema, Inherited type I and II | Detection of deletions and/or duplications in SERPING1 by MLPA | 28 days | LV2947 | +Info |
| Pheochromocytoma | Detection of deletions and/or duplications in the SDHB, SDHC, SDHD, SDHA, SDHAF2 genes by MLPA. | 42 days | LV2666 | +Info |
| Ehlers-Danlos Syndrome, type III | Detection of deletions and/or duplications in TNXB gene by MLPA | 28 days | LV1161 | +Info |
| Multiple Cavernomatosis | Detection of deletions and/or duplications inKRIT1, CCM2 y PDCD10 genes by MLPA | 35 days | LV2552 | +Info |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | Detection of deletions and/or duplicationsin POMT1 gene by MLPA | 28 days | LV2972 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Detection of deletions/duplications in the AGXT, GRHPR genes by MLPA | 28 days | LV4201 | +Info |
| Familial Cardiomyopathy | Detection of large delections orduplications in gene the GLA, MYBPC3 and TNNT2 genes by MLPA | 35 days | LV3611 | +Info |
| Capillary and Arteriovenous Malformations | Detection of large delections orduplications in RASA1 gene by MLPA | 28 days | LV3612 | +Info |
| Short QT Syndrome | Detection of large deletions and duplications in the KCNQ1, KCNH2 and KCNJ2 by MLPA | 28 days | LV1303 | +Info |
| Axenfeld-Rieger Syndrome | Detection of large deletions and/or duplications in FOXC1 gene by MLPA | 28 days | LV1567 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Detection of large deletions and/or duplications in GLA gene by MLPA | 28 days | LV1181 | +Info |
| Brugada syndrome | Detection of large deletions and/or duplications in SCN5A gene by MLPA | 28 days | LV1302 | +Info |
| Legius syndrome | Detection of large deletions and/or duplications in SPRED1 gene by MLPA | 28 days | LV1580 | +Info |
| Holt Oram syndrome | Detection of large deletions and/or duplications in TBX5 gene by MLPA | 28 days | LV2328 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A1 gene by MLPA | 28 days | LV0972 | +Info |
| Osteogenesis Imperfecta | Detection of large deletions and/or duplications in the COL1A2 gene by MLPA | 28 days | LV0973 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | Detection of large deletions and/or duplications in the COL3A1 gene by MLPA | 28 days | LV0889 | +Info |
| Long QT syndrome | Detection of large deletions and/or duplications in the KCNQ1, KCNE1,KCNH2, KCNE2, KCNJ2 and SCN5A genes by MLPA | 42 days | LV1301 | +Info |
| Atrial Fibrillation Familial | Detection of large deletions and/or duplications in the KCNQ1, KCNH2, KCNE2 genes by MLPA | 28 days | LV1304 | +Info |
| Coffin-Lowry syndrome | Detection of large deletions and/or duplications in the RPS6KA3 gene by MLPA | 28 days | LV1537 | +Info |
| Fanconi Anemia | Detection of large deletions and/orduplications in the FANCA gene by MLPA | 35 days | LV1586 | +Info |
| Marfan syndrome | Detection of large deletions and/orduplications in the FBN1 gene by MLPA | 28 days | LV1575 | +Info |
| Common test of all diseases | Detection of specific mutations | 28 days | LV0051 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Detection of the 22q11.2 deletion by MLPA | 28 days | LV1690 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed CLINICAL EXOME up to 200 genes with diagnostic report (capture of 58Mb) | 42 days | LV4152 | +Info |
| Clinical Exome Sequencing for diagnosis. | Directed KEY EXOME up to 200 genes with diagnostic report (capture of 17Mb) | 42 days | LV4150 | +Info |
| Muscular dystrophy, limb-girdle, type 2C | etection of large deletions and/or duplicationsIn SGCG gene by MLPA | 28 days | LV3285 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed CLINICAL EXOME to CLINICAL EXOME with diagnostic report (capture of 58Mb) | 42 days | LV4132 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of Directed KEY EXOME to Clinical KEY EXOME with diagnostic report (capture of 17Mb) | 42 days | LV4135 | +Info |
| Clinical Exome Sequencing for diagnosis. | Extension of exome analysis to relevantvariants located in research genes. | 42 days | LV3607 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother and father without report. | 28 days | LV4125 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, mother or father without report. | 28 days | LV4124 | +Info |
| Clinical Exome Sequencing for diagnosis. | Focus clinical Exome of patient, without report. | 28 days | LV4123 | +Info |
| Common test of all diseases | Genetic counseling consultation | Consult | LV0033 | +Info |
| Cardiovascular Risk | Genetic-clinical evaluation of cardiovascular risk | 35 days | LV4100 | +Info |
| Clinical Exome Sequencing for diagnosis. | Key Exome reanalysis | Consult | LV4170 | +Info |
| Medullary thyroid carcinoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Pheochromocytoma | Large deletions and duplications detection in theRET gene by MLPA | 35 days | LV3777 | +Info |
| Cerebral Amyloid Angiopathy | Large deletions and duplications detectionin the PSEN1, PSEN2 and APP genes by MLPA | 35 days | LV3747 | +Info |
| Pituitary adenoma | Large deletions and duplications detections in the MEN1 and AIP genes by MLPA | 28 days | LV3481 | +Info |
| Cutis Laxa autosomal dominant | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Supravalvular Aortic Stenosis | Next Generation Sequencing and Sanger Sequencing of the ELN gene | 42 days | LV1494 | +Info |
| Brugada syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Long QT syndrome | Next Generation Sequencing and Sanger Sequencing of the SCN5A gene | 42 days | LV1581 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the ACTN2 gene | 28 days | LV1430 | +Info |
| Ehlers-Danlos syndrome type 1 | Next Generation Sequencing and Sanger Sequencing of the COL5A2 gene | Consult | LV0728 | +Info |
| Congenital contractural arachnodactyly (Beals Syndrome) | Next Generation Sequencing and Sanger Sequencing of the FBN2 | 42 days | LV1435 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the MYBPC3 gene | 28 days | LV1437 | +Info |
| May-Hegglin anomaly | Next Generation Sequencing and Sanger Sequencing of the MYH9 gene | 42 days | LV1445 | +Info |
| Aortic valve disease | Next Generation Sequencing and Sanger Sequencing of the NOTCH1 gene | 42 days | LV1086 | +Info |
| Ehlers-Danlos syndrome, autosomal recessive, due to tenascin X deficie | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Ehlers-Danlos Syndrome, type III | Next Generation Sequencing and Sanger Sequencing of the TNXB gene | 42 days | LV0925 | +Info |
| Cardiomyopathy, dilated | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Familial Cardiomyopathy | Next Generation Sequencing and Sanger Sequencing of the VCL gene | 28 days | LV1443 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel: ACTC1, GLA, LAMP2, LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1. | 42 days | LV1516 | +Info |
| Nonobstructive Hypertrophic Cardiomyopathy | Next Generation Sequencing of 13 gene panel:ACTC1, GLA, LAMP2,LDB3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNC1, TNNI3, TNNT2, TPM1, and detections of deletions and/or duplications in the GLA, MYBPC3 and TNNT2 genes by MLPA | 42 days | LV1517 | +Info |
| Ehlers-Danlos syndrome, occipital horn type, Menkes syndrome and . Cardiac valvular dysplasia, X-linked, | Next Generation Sequencing of 2 gene panel: ATP7A, FLNA | 42 days | LV2179 | +Info |
| Jervell-Lange-Nielsen syndrome | Next Generation Sequencing of 2 gene panel: KCNE1, KCNQ1. | 42 days | LV1545 | +Info |
| Coronary Arteries Disease | Next Generation Sequencing of 2 gene panel: LRP6, MEF2A | 42 days | LV1288 | +Info |
| Filamin group and related disorders: Frontometaphyseal dysplasia, Atelosteogenesis 1, 3, FG 2, Melnick-Needles, Larsen, Frank-ter Haar syndromes , Otopalatodigital t | Next Generation Sequencing of 3 gene panel: FLNA, FLNB, SH3PXD2B. | 42 days | LV2203 | +Info |
| Long QT related to Andersen, Timothy & Jervell and Lange-Nielsen disea | Next Generation Sequencing of 3 gene panel: KCNJ2, CACNA1C, KCNQ1 | 42 days | LV1528 | +Info |
| Bicuspid aortic valve and Arterial tortuosity | Next Generation Sequencing of 4 gene paneL: EFEMP2, FBLN5, NOTCH1, SLC2A10 | 42 days | LV1481 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 5 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3 | 42 days | LV2176 | +Info |
| Cutis laxa 1,2 AD, Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities. Cutis laxa, AR, type IB, IA, IIB, IIIB. | Next Generation Sequencing of 5 gene panel: EFEMP2, ELN, FBLN5, LTBP4, PYCR1 | 42 days | LV2180 | +Info |
| Ehlers-Danlos syndrome, type I, II, III, IV, VIIA, VIIB, autosomal dominant, E-D hypermobility type, AD. | Next Generation Sequencing of 6 gene panel: COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, TNXB. | 42 days | LV2177 | +Info |
| Cardiomyopathy with cardiac conduction disease related to Myofibrill | Next Generation Sequencing of 6 gene panel: BAG3, CRYAB, DES, FLNC, LDB3, MYOT. | 42 days | LV1508 | +Info |
| Brain small vessel disease with hemorrhage. Angiopathy, hereditary, with nephropathy, aneurysms. and Porencephaly, Bone fragility with contractures, arterial rupture and deafness o Lysyl hy | Next Generation Sequencing of 6 gene panel: COL4A1, GLMN, PLOD3, SLC2A10, SMAD3, RASA1 | 42 days | LV3111 | +Info |
| Ehlers-Danlos syndrome, types VI, VIB, VIIC, E-D musculocontractural type, E-D cardiac valvular form, E-D syndrome-like, E-D, due to tenascin X deficiency, autosomal recessive, Homocystinur | Next Generation Sequencing of 8 gene panel: ADAMTS2, CHST14, CBS, COL1A2, PLOD1, SLC39A13, TNXB, ZNF469. | 42 days | LV2178 | +Info |
| Capillary and Arteriovenous Malformations | NGS AND Sanger sequencing of the RASA1 gene | 42 days | LV3110 | +Info |
| Marfan syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| MASS syndrome | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Weill-Marchesani syndrome 2, dominant | NGS and Sanger sequencing FBN1 gene | 42 days | LV2366 | +Info |
| Brugada syndrome 3 | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Timothy syndrome | NGS and Sanger Sequencing in the CACNA1C gene | 42 days | LV1742 | +Info |
| Atrial fibrillation, familial, 12 | NGS and Sanger sequencing of ABCC9 gene | 42 days | LV2518 | +Info |
| Duchenne-Becker Muscular Dystrophy | NGS and Sanger sequencing of DMD gene | 42 days | LV2484 | +Info |
| Tangier disease | NGS and Sanger Sequencing of the ABCA1 gene | 42 days | LV2435 | +Info |
| Glycogen storage disease III | NGS and Sanger Sequencing of the AGL gene | 42 days | LV2477 | +Info |
| Long QT syndrome-11 | NGS and Sanger Sequencing of the AKAP9 gene | 42 days | LV1716 | +Info |
| Cardiac arrhythmia, ankyrin-B-related | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Long QT syndrome-4 | NGS and Sanger Sequencing of the ANK2 gene | 42 days | LV1720 | +Info |
| Hypercholesterolemia, familial | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Hypobetalipoproteinemia | NGS and Sanger sequencing of the APOB gene | 28 days | LV3429 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, type VIIA | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Osteogenesis Imperfecta | NGS and Sanger Sequencing of the COL1A1 gene | 42 days | LV2263 | +Info |
| Ehlers-Danlos syndrome, cardiac valvular form | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Ehlers-Danlos syndrome, Type VIIB | NGS and Sanger Sequencing of the COL1A2 gene | 42 days | LV1770 | +Info |
| Ehlers-Danlos Syndrome, type III | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Ehlers-Danlos syndrome, type IV (vascular) | NGS and Sanger Sequencing of the COL3A1 gene | 42 days | LV2264 | +Info |
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle | NGS and Sanger Sequencing of the COL4A1 gene | 42 days | LV2408 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Ehlers-Danlos syndrome, type II | NGS and Sanger Sequencing of the COL5A1 gene | 42 days | LV2262 | +Info |
| Arterial calcification, generalized, of infancy, 1 | NGS and Sanger Sequencing of the ENPP1 gene | 42 days | LV1840 | +Info |
| Cardiomyopathy, dilated, 1J | NGS and Sanger Sequencing of the EYA4 gene | 42 days | LV1845 | +Info |
| Aortic aneurysm, familial thoracic 4 | NGS and Sanger Sequencing of the MYH11 gene | 42 days | LV1948 | +Info |
| Atrial septal defect 3 | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Cardiomyopathy, dilated, 1EE | NGS and Sanger Sequencing of the MYH6 gene | 42 days | LV1952 | +Info |
| Carney complex variant | NGS and Sanger Sequencing of the MYH8 gene | 42 days | LV1958 | +Info |
| Aortic aneurysm, familial thoracic 7 | NGS and Sanger Sequencing of the MYLK gene | 42 days | LV1965 | +Info |
| Cardiomyopathy, dilated | NGS and Sanger Sequencing of the NEBL gene | 42 days | LV1977 | +Info |
| Progressive familial heart block, type IB | NGS and Sanger Sequencing of the TRPM4 gene | 42 days | LV2071 | +Info |
| Hypercholesterolemia, familial | NGS of 8 gene panel: ABCG5, ABCG8, APOB,APOE, CYP7A1, LDLR, LDLRAP1, PCSK9. | 42 days | LV3368 | +Info |
| Coffin-Siris syndrome; Hyperphosphatasia with mental retardation syndrome | NGS of 8 gene panel: ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, PGAP2, PIGO, PIGV | 42 days | LV2984 | +Info |
| Axenfeld-Rieger; Otopalatodigital; Velocardiofacial; Speech-language disorder-1; Orofacial cleft 7; Orofaciodigital syndrome; Branchiooculofacial, syndromes | NGS of 8 gene panel: FOXC1, PITX2, FLNA, TBX1, FOXP2, PVRL1, TCTN3, TFAP2A | 42 days | LV3010 | +Info |
| Simpson-Golabi-Behmel Syndrome | NGS of 8 gene panel: GPC3, GPC4, OFD1, EZH2, NRCAM, NFIX, NSD1, MED12 | 42 days | LV3004 | +Info |
| Hypercholesterolemia, familial | NGS of a 3-gene panel: APOB, LDLR and PCSK9 | 42 days | LV3931 | +Info |
| Ehlers-Danlos syndrome type 1 | NGS of two genes: COL5A1, COL5A2. | 42 days | LV2949 | +Info |
| Ceroid lipofuscinosis | NGS of 10 gene panel: ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, MFSD8, PPT1, TPP1. | 42 days | LV3515 | +Info |
| Congenital disorder of glycosylation, type II and Wrinkly skin syndrome | NGS of 10 gene panel: ATP6V0A2, B4GALT1, COG1, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35C1, TUSC3 | 42 days | LV3514 | +Info |
| Mucopolysaccharidosis types: Morquio, Scheie, Hurler, Hurler-Scheie, Maroteaux¦Lamy, Sly, Sanfilippo A, B, C, D, Hunter y IX. | NGS of 11 gene panel: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH. | 42 days | LV3498 | +Info |
| Lysosomal metabolic disorders: Aspartylglucosaminuria, Cystinosis, Galactosialidosis, Cerebral creatine deficiency, Sialuria, Malonyl-CoA decarboxylase deficiency, Mevalonic acid | NGS of 12 gene panel: AGA, CTNS, CTSA, GAMT, GATM, GNE, MLYCD, MVK, SLC17A5, SLC6A8, SUMF1, XDH | 42 days | LV3502 | +Info |
| Phospholipid disorders: PHARC, MNGIE TYPE, Sjogren-Larsson, Neurodegeneration with brain iron accumulation, Spastic paraplegia, GM3 synthase deficiency, HSAN1, Myoglobinur | NGS of 14 gene panel: ABHD12, ABHD5, AGK, CHKB, ELOVL4, FA2H, LPIN1, PANK2, PLA2G6, PNPLA6, ST3GAL5, SPTLC1, SPTLC2, TAZ | 42 days | LV3506 | +Info |
| Peroxisome biogenesis disorder, Adrenoleukodystrophy, Refsum disease neonatal e infantil, Rhizomelic chondrodysplasia punctata 1 | NGS of 15 gene panel: ABCD1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7. | 42 days | LV3508 | +Info |
| Congenital disorder of glycosylation, type I | NGS of 15 gene panel: ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1, SRD5A3. | 42 days | LV3513 | +Info |
| Familial Hypercholesterolemia and hyperlipidemia, mixed and detection of Statin myopathy | NGS of 16 gene panel: ABCG5, ABCG8, APOB, APOE, CH25H, CYP7A1, INSIG2, LDLR, LDLRAP1, LIPA, NPC1, NPC2, OSBPL5, PCSK9, STAP1, SLCO1B1 | 42 days | LV3390 | +Info |
| Sphingolipidosis: Gaucher, Metachromatic leukodystrophy, Krabbe, Niemann Pick, Fabry, Tay-Sachs, Sandhoff, Gangliosidosis, Farber, Wolman. | NGS of 17 gene panel: ARSA, ASAH1, GALC, GBA, GBA2, GBA3, GLA, GLB1, GM2A, HEXA, HEXB, LIPA, NAGA, NPC1, PSAP, SCARB2, SMPD1. | 42 days | LV3499 | +Info |
| Defects ?-oxidation of fatty acids: Refsum disease, Phytanoyl-CoA hydroxilase | NGS of 2 gene panel: PHYH, PEX7. | 42 days | LV3511 | +Info |
| Griscelli syndrome | NGS of 3 gene panel: MLPH, MYO5A, RAB27A | 42 days | LV3504 | +Info |
| Mitochondrial DNA depletion syndrome (cardiomyopathic and myopathic types) | NGS of 4 gene panel: AGK, MGME1, SLC25A4, TK2 | 42 days | LV3251 | +Info |
| Glycogen storage disease | NGS of 4 gene panel: G6PC, GYS1, GYS2, SLC37A4 | 42 days | LV3270 | +Info |
| Hyperalphalipoproteinemia | NGS of 4 gene panel: APOC3, CETP, LIPC, SLCO1B1 | 42 days | LV3392 | +Info |
| Ichthyosis, neurological disorder, and skeletal dysplasia and Papillon Lefevre | NGS of 4 gene panel: ABHD5, ALDH3A2, CTSC, ELOVL4. | 42 days | LV3507 | +Info |
| Hyperoxaluria, Acatalasemia, Mulibrey syndrome, defective mitochondrial peroxisomal fission. | NGS of 5 gene panel: AGXT, CAT, DNM1L, SOD1, TRIM37, | 42 days | LV3512 | +Info |
| Glycoproteinosis, fucosidosis, Mannosidosis, Gklycogenosis type 2 | NGS of 5 gene panel: FUCA1, GAA, LAMP2, MAN2B1, MANBA | 42 days | LV3505 | +Info |
| Hypoalphalipoproteinemia. | NGS of 5 gene panel: ABCA1, APOA1, GBA, LCAT, LPL | 42 days | LV3394 | +Info |
| Lysosomal bone disorders: Geleophysic dysplasia, Otospondylomegaepiphyseal dysplasia, Pycnodysostosis, Smith-McCort dysplasia, | NGS of 6 gene panel: ADAMTSL2, COL11A2, COL2A1, CTSK, DYM, RAB33B. | 42 days | LV3501 | +Info |
| Hypocholesterolemia and Hypotriglyceridemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3393 | +Info |
| Hypobetalipoproteinemia | NGS of 7 gene panel: ANGPTL3, APOB, APOC3, MTTP, NPC1L1, PCSK9, SAR1B. | 42 days | LV3395 | +Info |
| Cardiomyopathy, Familial | NGS of a 101-gene panel: A2ML1, ABCC9, ACTC1, ACTN2, AGL, ANK2, ANKRD1, BAG3, BRAF, CALR3, CAV3, CBL, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, FXN, GAA, GATAD1, GBE1, GLA, GYG1, GYS1, HCN4, HFE, HRAS, ILK, JPH2, JUP, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NRAS, OBSCN, PDLIM3, PKP2, PKP4, PLEC, PLN, PRDM16, PRKAG2, PSEN1, PSEN2, PTPN11, RAF1, RBM20, RIT1, RRAS, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SOS1, SOS2, SYNE1, SYNE2, TAZ, TCAP, TGFB3, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 56 days | LV3944 | +Info |
| Noonan syndrome 4 | NGS of a 13-gene panel: A2ML1, BRAF, CBL, KRAS, LZTR1, NRAS, PTPN11, RAF1, RIT1, RRAS, SHOC2, SOS1, SOS2 | 42 days | LV3950 | +Info |
| Cardiomyopathy, familial restrictive | NGS of a 13-gene panel: ACTC1, DES, FLNC, GLA, MYBPC3, MYH7, MYL2, MYL3, MYPN, TNNI3, TNNT2, TPM1, TTR | 42 days | LV3947 | +Info |
| Pulmonary Hypertension | NGS of a 13-gene panel: ACVRL1, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNK3, NOTCH3, RASA1, RASA2, SMAD4, SMAD9 | 42 days | LV3968 | +Info |
| Septal defects | NGS of a 14-gene panel: ACTC1, CITED2, CRELD1, EVC, FOXC1, G6PC3, GATA4, GATA6, GJA1, GLA, MYH6, NKX2-5, TBX20, TLL1 | 42 days | LV3956 | +Info |
| Heart valve disorders | NGS of a 14-gene panel: CBL, CHST14, ELN, FBLN5, FKBP14, FLNA, HRAS, KRAS, LZTR1, NOTCH1, RIT1, SMAD6, TAB2, TNXB | 42 days | LV3962 | +Info |
| Tetralogy of Fallot and other conotruncal malformations | NGS of a 14-gene panel: EHMT1, GATA4, GATA6, GDF1, HAND2, JAG1, NKX2-5, NKX2-6, NODAL, NOTCH2, RBM10, TBX1, TBX5, ZFPM2 | 42 days | LV3957 | +Info |
| Arterial calcification, generalized | NGS of a 2-gene panel: ABCC6, ENPP1 | 42 days | LV3967 | +Info |
| Veno-occlusive pulmonary disease | NGS of a 2-gene panel: BMPR2, EIF2AK4 | 42 days | LV3965 | +Info |
| Wolff-Parkinson White, syndrome | NGS of a 2-gene panel: GAA, PRKAG2 | 42 days | LV3943 | +Info |
| Moyamoya disease | NGS of a 2-gene panel: GUCY1A3, RNF213 | 42 days | LV3966 | +Info |
| Costello Syndrome | NGS of a 2-gene panel: HRAS, NRAS | 42 days | LV3952 | +Info |
| RASopathies syndromes | NGS of a 20-gene panel: A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1 | 42 days | LV3949 | +Info |
| Left ventricular Non-Compaction | NGS of a 20-gene panel: ACTC1, ACTN2, DMD, DTNA, FHL1, GLA, HCN4, LDB3, LMNA, MIB1, MYBPC3, MYH6, MYH7, MYL2, MYPN, PRDM16, RYR2, TAZ, TNNT2, TPM1 | 42 days | LV3948 | +Info |
| Sudden Death | NGS of a 200-gene panel: ABCC6, ABCC9, ACTA2, ACTC1, ACTN2, ACVRL1, AGL, AKAP9, ALG10, ANK2, ANKRD1, BAG3, BMPR2, BRAF, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CALR3, CASQ2, CAV1, CAV3, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DTNA, EFEMP2, EIF2AK4, ELN, EMD, ENG, ENPP1, EYA4, FBLN5, FBN1, FBN2, FHL1, FHL2, FHOD3, FKBP14, FKRP, FKTN, FLNA, FLNC, FOXF1, FXN, GAA, GATA4, GATA6, GATAD1, GBE1, GDF2, GJA1, GJA5, GLA, GLMN, GNAI2, GPD1L, GUCY1A3, GYG1, GYS1, HCN4, HFE, HRAS, HTRA1, ILK, JPH2, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, KRAS, KRIT1, LAMA4, LAMP2, LDB3, LMNA, LOX, LRP6, LZTR1, MAP2K1, MAP2K2, MEF2A, MFAP5, MIB1, MYBPC3, MYH11, MYH6, MYH7, MYL2, MYL3, MYLK, MYLK2, MYOT, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NKX2-6, NOTCH1, NOTCH3, NPPA, NRAS, NUP155, OBSCN, PDLIM3, PKP2, PKP4, PLN, PLOD1, PRDM16, PRKAG2, PRKG1, PROC, PROS1, PSEN1, PSEN2, PTPN11, RAF1, RANGRF, RASA1, RASA2, RBM20, RIT1, RNF213, RRAS, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC25A4, SLC2A10, SLMAP, SMAD3, SMAD4, SMAD6, SNTA1, SOS1, SOS2, SPRED1, SYNE1, SYNE2, TAZ, TCAP, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM43, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TNXB, TPM1, TRDN, TRPM4, TTN, TTR, VCL, XK, ZNF469 | 56 days | LV3969 | +Info |
| Brugada and J Wave Syndromes | NGS of a 21-gene panel: ABCC9, CACNA1C, CACNA2D1, CACNB2, GPD1L, HCN4, KCND2, KCND3, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ8, PKP2, RANGRF, SCN1B, SCN2B, SCN3B, SCN5A, SLMAP, TRPM4 | 42 days | LV3938 | +Info |
| Syndromes associated with aortic aneurysm: Marfan, Beals, Ehlers Danlos, Homocystinuria, Cantu, Loeys Dietz. | NGS of a 21-gene panel: ABCC9, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, FBLN5, FBN1, FBN2, FKBP14, PLOD1, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3964 | +Info |
| Cardiac conduction diseases | NGS of a 21-gene panel: ACTC1, CACNA1D, DES, EMD, GAA, GJA5, GLA, HCN4, HFE, KCNJ2, KCNK17, LAMP2, LMNA, NKX2-5, PRKAG2, SCN1B, SCN5A, TBX5, TNNI3K, TRPM4, TTR | 42 days | LV3942 | +Info |
| Atrial Fibrillation Familial | NGS of a 29-gene panel: ABCC9, ACTC1, EMD, GATA4, GATA6, GJA1, GJA5, HCN4, KCNA5, KCND3, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNQ1, LMNA, NKX2-6, NPPA, NUP155, RANGRF, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TBX5 | 42 days | LV3937 | +Info |
| Leopard syndrome | NGS of a 3-gene panel: BRAF, PTPN11, RAF1 | 42 days | LV3953 | +Info |
| Vascular disorders of the brain and other organs | NGS of a 36-gene panel: ABCC6, ACVRL1, BMPR2, CAV1, CBS, COL4A1, EFEMP2, EIF2AK4, ENG, ENPP1, GAA, GDF2, GLMN, GUCY1A3, HTRA1, KCNK3, KRIT1, NF1, NOTCH3, NRAS, PROC, PROS1, RAF1, RASA1, RASA2, RNF213, RRAS, SLC2A10, SMAD3, SMAD9, SOS1, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3961 | +Info |
| Aortic disorders | NGS of a 38-gene panel: ABCC9, ACTA2, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, EFEMP2, ELN, FBN1, FBN2, FKBP14, FLNA, GAA, HRAS, LOX, LZTR1, MFAP5, MYH11, MYLK, NKX2-5, NOTCH1, PLOD1, PRKG1, PTPN11, SLC2A10, SMAD3, SMAD4, SMAD6, SOS2, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3960 | +Info |
| Hemorrhagic telangiectasia | NGS of a 4-gene panel: ACVRL1, ENG, GDF2, SMAD4 | 42 days | LV3963 | +Info |
| Cardiofaciocutaneous Syndrome | NGS of a 4-gene panel: BRAF, KRAS, MAP2K1, MAP2K2 | 42 days | LV3951 | +Info |
| Loeys-Dietz Syndrome | NGS of a 5-gene panel: SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2 | 42 days | LV3970 | +Info |
| Cardiomyopathy, dilated | NGS of a 50-gene panel: ABCC9, ACTC1, ACTN2, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, EMD, EYA4, FHL1, FHL2, FHOD3, FKRP, FKTN, FLNC, GAA, GATAD1, GBE1, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYPN, NEBL, NEXN, PLN, PRDM16, PSEN1, PSEN2, RAF1, RBM20, SCN5A, SDHA, SGCD, SYNE1, SYNE2, TAZ, TMPO, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TTN, TTR, VCL, XK | 42 days | LV3946 | +Info |
| Familial Cardiomyopathy | NGS of a 50-gene panel: ACTC1, ACTN2, AGL, ANK2, ANKRD1, BRAF, CALR3, CAV3, CSRP3, DES, FHOD3, FLNC, FXN, GLA, GYG1, GYS1, HRAS, JPH2, KRAS, LAMP2, LDB3, MAP2K1, MAP2K2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, NRAS, OBSCN, PDLIM3, PLN, PRKAG2, PTPN11, SCN5A, SHOC2, SLC25A4, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL | 42 days | LV3945 | +Info |
| Congenital Heart Diseases | NGS of a 51-gene panel: A2ML1, ACTC1, ACVR2B, BRAF, CBL, CFC1, CHD7, CITED2, CRELD1, EHMT1, EVC, FOXC1, FOXF1, G6PC3, GATA4, GATA6, GDF1, GJA1, HAND2, HRAS, JAG1, KRAS, LZTR1, MAP2K1, MAP2K2, MMP21, MYH6, NKX2-3, NKX2-5, NKX2-6, NODAL, NOTCH1, NOTCH2, NRAS, PTPN11, RAF1, RBM10, RIT1, RPSA, RRAS, SHOC2, SOS1, SOS2, TAB2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZFPM2, ZIC3 | 42 days | LV3955 | +Info |
| Visceral heterotaxia | NGS of a 7-gene panel: ACVR2B, CFC1, CRELD1, MMP21, NODAL, ZIC3 | 42 days | LV3958 | +Info |
| Aortic and vascular disorders | NGS of a 74-gene panel: A2ML1, ABCC6, ABCC9, ACTA2, ACVRL1, BMPR2, CAV1, CBL, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL4A1, COL5A1, COL5A2, EFEMP2, EIF2AK4, ELN, ENG, ENPP1, FBLN5, FBN1, FBN2, FKBP14, FLNA, GAA, GDF2, GLMN, GUCY1A3, HRAS, HTRA1, KCNK3, KRAS, KRIT1, LOX, LRP6, LZTR1, MEF2A, MFAP5, MYH11, MYLK, NF1, NKX2-5, NOTCH1, NOTCH3, NRAS, PLOD1, PRKG1, PROC, PROS1, PTPN11, RAF1, RASA1, RASA2, RIT1, RNF213, RRAS, SLC2A10, SMAD3, SMAD4, SMAD6, SMAD9, SOS1, SOS2, SPRED1, TAB2, TEK, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469 | 42 days | LV3959 | +Info |
| Short QT Syndrome | NGS of a 8-gene panel: CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, KCNH2, KCNJ2, KCNQ1 | 42 days | LV3940 | +Info |
| Ventricular Tachycardia, catecholaminergic Polymorphic | NGS of a 8-gene panel: CALM1, CALM2, CALM3, CASQ2, GNAI2, KCNJ2, RYR2, TRDN | 42 days | LV3941 | +Info |
| Familial Arrhythmia. | NGS of a 85-gene panel:ABCC9, ACTC1, AKAP9, ALG10, ANK2, CACNA1B, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, DES, DPP6, DSC2, DSG2, DSP, EMD, GAA, GATA4, GATA6, GJA1, GJA5, GLA, GNAI2, GPD1L, GYG1, HCN4, HFE, HRAS, JUP, KCNA5, KCND2, KCND3, KCNE1, KCNE2, KCNE3, KCNE4, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNK17, KCNQ1, LAMP2, LMNA, MYH6, NKX2-5, NKX2-6, NPPA, NRAS, NUP155, PKP2, PKP4, PLN, PRKAG2, PTPN11, RAF1, RANGRF, RYR1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLMAP, SNTA1, TBX5, TGFB3, TMEM43, TNNC1, TNNI3, TNNI3K, TNNT2, TRDN, TRPM4, TTN, TTR, XK | 42 days | LV3936 | +Info |
| Long QT syndrome | NGS of a a 19-gene panel: AKAP9, ALG10, ANK2, CACNA1C, CALM1, CALM2, CALM3, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1, TRDN | 42 days | LV3939 | +Info |
| Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis, Pitt Hopkins. | NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4, | 42 days | LV3503 | +Info |
| Glycogen storage disease | NGS of 24 gene panel: AGL, ALDOA, ENO3, G6PC, GAA, GBE1, GYG1, GYS1, GYS2, LAMP2, LDHA, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PRKAG2, PYGL, PYGM, SLC2A2, SLC37A4. | 42 days | LV3397 | +Info |
| Rhizomelic chondrodysplasia punctata | NGS of 4 gene panel: AGPS, GNPAT, PEX5, PEX7. | 42 days | LV3509 | +Info |
| Mucolipidosis, Sialidosis. | NGS of 4 gene panel: GNPTAB, GNPTG, MCOLN1, NEU1 | 42 days | LV3500 | +Info |
| Dyslipidemia associated with storage diseases | NGS of 4 gene panel: NPC1, NPC2, LIPA, GBA | 42 days | LV3396 | +Info |
| Hypertriglyceridemia | NGS of 9 gene panel: APOA5, APOB, APOC2, GCKR, GPD1, GPIHBP1, LMF1, LPL, SLCO1B1 | 42 days | LV3391 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Seq.of the GLA gene & Detection of large deletions and/or duplications in the GLA gene by MLPA | 42 days | LV1495 | +Info |
| Holt Oram syndrome | Sanger sequencing of gen TBX5 gene | 35 days | LV0761 | +Info |
| Diamond-Blackfan anemia 9 | Sanger Sequencing of RPS10 gene | Consult | LV2283 | +Info |
| Familial Paraganglioma 4 | Sanger sequencing of SDHB gene | 35 days | LV0695 | +Info |
| Polyarteritis Nodosa, childhood-onset (PAN) | Sanger sequencing of the ADA2 (CECR1) gene | 42 days | LV3792 | +Info |
| Geleophysic dysplasia 1 | Sanger Sequencing of the ADAMTSL2 gene | Consult | LV2896 | +Info |
| Hyperoxaluria, primary, type I (HP1) | Sanger sequencing of the AGXT gene | 53 days | LV3674 | +Info |
| Pituitary adenoma | Sanger sequencing of the AIP gene | 35 days | LV3821 | +Info |
| Alstrom syndrome | Sanger Sequencing of the ALMS1 gene | 84 days | LV2331 | +Info |
| ACTH-independent macronodular adrenal hyperplasia 2 | Sanger sequencing of the ARMC5 gene | 32 days | LV3538 | +Info |
| Bohring Opitz syndrome | Sanger Sequencing of the ASXL1 gene | 46 days | LV2916 | +Info |
| Peters-plus syndrome | Sanger Sequencing of the B3GLCT gene | 42 days | LV2514 | +Info |
| Pulmonary hypertension, familial primary, 1 | Sanger Sequencing of the BMPR2 gene | 42 days | LV0157 | +Info |
| Muscular dystrophy, limb-girdle, type IC | Sanger Sequencing of the CAV3 gene | 35 days | LV2405 | +Info |
| Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | Sanger sequencing of the CBL gene | 46 days | LV3565 | +Info |
| Homocystinuria, B6-responsive and nonresponsive types | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Thrombosis, hyperhomocysteinemic | Sanger Sequencing of the CBS gene | 35 days | LV2599 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the CCM2 gene | 42 days | LV1258 | +Info |
| CPT deficiency, hepatic, type II | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| CPT II deficiency, lethal neonatal | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Myopathy due to CPT II deficiency | Sanger sequencing of the CPT2 | 35 days | LV3380 | +Info |
| Warsaw breakage syndrome | Sanger sequencing of the DDX11 gene | 60 days | LV3559 | +Info |
| Primary Ciliary Dyskinesia 1 | Sanger sequencing of the DNAI1 gene | 49 days | LV1104 | +Info |
| Emery-Dreifuss muscular dystrophy 1, X-linked | Sanger Sequencing of the EMD gene | 28 days | LV1341 | +Info |
| Vici syndrome | Sanger sequencing of the EPG5 gene | 49 days | LV3527 | +Info |
| Fanconi Anemia | Sanger Sequencing of the FANCA gene | 42 days | LV1847 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the FOXC1 gene | 35 days | LV1697 | +Info |
| Congenital Nystagmus X-linked | Sanger Sequencing of the FRMD7 gene | 126 days | LV0754 | +Info |
| Atrial septal defect 2 | Sanger sequencing of the GATA4 gene | 28 days | LV3239 | +Info |
| Ventricular septal defect 1 | Sanger sequencing of the GATA4 gene | 28 days | LV3239 | +Info |
| Glycogen storage disease type IV | Sanger Sequencing of the GBE1 gene | Consult | LV0926 | +Info |
| Hypoplastic left heart syndrome | Sanger Sequencing of the GJA1 gene | 35 days | LV0545 | +Info |
| Alpha-Galactosidase A Deficiency (Fabry disease) | Sanger Sequencing of the GLA gene | 42 days | LV1180 | +Info |
| Nonaka myopathy | Sanger sequencing of the GNE gene | 56 days | LV3493 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger sequencing of the GPC3 gene | 53 days | LV3652 | +Info |
| Polyglucosan body myopathy 2 | Sanger sequencing of the GYG1 gene | 84 days | LV3280 | +Info |
| Costello Syndrome | Sanger Sequencing of the HRAS gene | Consult | LV1097 | +Info |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, type 2 | Sanger sequencing of the HTRA1 gene | 53 days | LV3775 | +Info |
| Mucopolysaccharidosis Type II | Sanger Sequencing of the IDS gene | Consult | LV1152 | +Info |
| Mucopolysaccharidosis I | Sanger Sequencing of the IDUA gene | 35 days | LV3108 | +Info |
| Alagille, type 1 syndrome | Sanger Sequencing of the JAG1 gene | 42 days | LV0236 | +Info |
| Andresen-Tawil Syndrome | Sanger sequencing of the KCNJ2 gene | 28 days | LV3241 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the KRAS gene | Consult | LV0731 | +Info |
| Multiple Cavernomatosis | Sanger sequencing of the KRIT1 gene | 42 days | LV0759 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLR gene | 42 days | LV0219 | +Info |
| Hypercholesterolemia, familial | Sanger Sequencing of the LDLRAP1 gene | Consult | LV2303 | +Info |
| Methylmalonic aciduria and homocystinuria, cblC type | Sanger Sequencing of the MMACHC gene | Consult | LV2967 | +Info |
| Multiple Cavernomatosis | Sanger Sequencing of the PDCD10 gene | 42 days | LV2515 | +Info |
| Peroxisome biogenesis disorder 1A (Zellweger) | Sanger sequencing of the PEX1 gene | 70 days | LV3383 | +Info |
| Axenfeld-Rieger Syndrome | Sanger Sequencing of the PITX2 gene | 35 days | LV2312 | +Info |
| Ehlers-Danlos syndrome, type VI | Sanger Sequencing of the PLOD1 gene | 35 days | LV2587 | +Info |
| Congenital disorder of glycosylation, type Ia | Sanger Sequencing of the PMM2 gene | Consult | LV1283 | +Info |
| Familial Cardiomyopathy | Sanger Sequencing of the PRKAG2 gene | 56 days | LV1206 | +Info |
| Carney complex variant | Sanger sequencing of the PRKAR1A gene | 35 days | LV3290 | +Info |
| Noonan 1 syndrome | Sanger Sequencing of the PTPN11 gene | 42 days | LV0257 | +Info |
| Noonan 1 syndrome | Sanger sequencing of the RAF1 gene | 56 days | LV0575 | +Info |
| Thrombocytopenia-absent radius syndrome (TAR syndrome) | Sanger sequencing of the RBM8A gene | 32 days | LV2665 | +Info |
| Noonan Syndrome 8 | Sanger sequencing of the RIT1 gene | 32 days | LV3560 | +Info |
| Coffin-Lowry syndrome | Sanger Sequencing of the RPS6KA3 gene | 42 days | LV0335 | +Info |
| Pseudohypoaldosteronism Type 1B, Autosomal Recessive | Sanger sequencing of the SCNN1A gene | 56 days | LV1424 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1B gene | 42 days | LV0469 | +Info |
| Liddle syndrome | Sanger Sequencing of the SCNN1G gene | 42 days | LV0470 | +Info |
| Familial Paraganglioma 1 | Sanger Sequencing of the SDHD gene | 35 days | LV0484 | +Info |
| Angioedema, Inherited type I and II | Sanger Sequencing of the SERPING1 gene | 42 days | LV0834 | +Info |
| Shprintzen-Goldberg syndrome | Sanger Sequencing of the SKI gene | 35 days | LV2308 | +Info |
| Arterial tortuosity syndrome | Sanger Sequencing of the SLC2A10 gene | Consult | LV3103 | +Info |
| Legius syndrome | Sanger Sequencing of the SPRED1 gene | 35 days | LV2471 | +Info |
| 22q11.2 Microdeletion (DiGeorge, velocardiofacial syndromes) | Sanger Sequencing of the TBX1 gene | 35 days | LV2912 | +Info |
| Cardiomyopathy, hypertrophic, 25 | Sanger sequencing of the TCAP gene | 35 days | LV4048 | +Info |
| Muscular dystrophy, limb-girdle, type 2G | Sanger sequencing of the TCAP gene | 35 days | LV4048 | +Info |
| Loeys-Dietz Syndrome, type 1A | Sanger sequencing of the TGFBR1 gene | 42 days | LV0798 | +Info |
| Loeys-Dietz Syndrome | Sanger Sequencing of the TGFBR2 gene | 42 days | LV0283 | +Info |
| Cardiomyopathy, dilated, 1FF | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, dilated, 2A | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, familial restrictive, 1 | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Cardiomyopathy, hypertrophic, 7 | Sanger Sequencing of the TNNI3 gene | 28 days | LV3094 | +Info |
| Familial Amyloidosis | Sanger Sequencing of the TTR gene | 32 days | LV1471 | +Info |
| Gordon Syndrome | Sanger Sequencing of the WNK4 gene | 42 days | LV0825 | +Info |
| Denys-Drash syndrome | Sanger sequencing of the WT1 gene | 53 days | LV3662 | +Info |
| Simpson-Golabi-Behmel Syndrome | Sanger Sequencing, and detection of deletions and duplications in the GPC3 gene by MLPA | 49 days | LV0782 | +Info |
| Confirmation of the effect of Specific Mutation in mRNA | Sequencing of a specific fragment of complementary DNA corresponding to messenger RNA by RT-PCR | 56 days | LV1682 | +Info |
| Common test of all diseases | Study of prenatal maternal contamination | Consult | LV1140 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (duo) | 56 days | LV3755 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted clinical exome (trio) | 56 days | LV3756 | +Info |
| Clinical Exome Sequencing for diagnosis. | Targeted exome up to 200 genes | 56 days | LV3754 | +Info |
| Loeys-Dietz Syndrome | TGFBR1 and TGFBR2 large deletions and duplicationsdetection by MLPA | 35 days | LV3373 | +Info |
