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Neurological Disorders
| PREMATURE FAMILY ALZHEIMER'S DISEASE |
Complete sequencing of the APP gene |
| Complete sequencing of the PSEN1 gene |
| Complete sequencing of the PSEN2 gene |
| LATE-ONSET ALZHEIMER'S DISEASE |
Genotyping of the APOE gene |
| FRIEDREICH'S ATAXIA |
GAA triplet-repeat expansion analysis of the FRDA (X25) gene |
| SPINOCEREBELLAR ATAXIAS |
CAG triplet-repeat expansion analysis of the SCA1, SCA2, SCA3, SCA6 and SCA7 genes |
| CTG triplet-repeat expansion analysis of the SCA8 gene |
| SPINAL MUSCULAR ATROPHY |
Exon 7 deletion analysis of the SMN gene |
| SPINOBULBAR MUSCULAR ATROPHY (KENNEDY'S DISEASE) |
CAG triplet-repeat expansion analysis of the AR gene |
| CADASIL (CEREBRAL ARTERIOPATHY) |
Mutation screening in exons 3 and 4 of the NOTCH3 gene |
| Mutation screening in exons 5, 6, 11, 12, 18 and 19 of the NOTCH3 gene |
| HUNTINGTON'S DISEASE |
CAG triplet-repeat expansion analysis in the IT15 region of the HD gene |
| CHARCOT-MARIE-TOOTH TYPE 1A |
Detection of CMT1A duplication |
| Complete sequencing of the PMP22 gene |
| CHARCOT-MARIE-TOOTH TYPE 1X |
Complete sequencing of the GJB1 (Connexin32) gene |
| CHARCOT-MARIE-TOOTH TYPE 1B |
Complete sequencing of the MPZ gene |
| CHARCOT-MARIE-TOOTH TYPE 1C |
Complete sequencing of the LITAF/SIMPLE gene |
| CHARCOT-MARIE-TOOTH TYPE 1D |
Complete sequencing of the EGR2 gene |
| FRONTOTEMPORAL DEMENTIA |
Complete sequencing of the MAPT gene |
| TAY-SACHS DISEASE |
Mutation screening of 1277insTATC, 1421+1G>C and G269S in the HEXA gene |
| Complete sequencing of the HEXA gene |
| PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION |
Complete sequencing of the PANK2 gene |
| HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES (HNPP) |
17p11.2 deletion detection in the PMP22 gene |
| Complete sequencing of the PMP22 gene |
| FAMILIAL PARKINSON DISEASE (PARK1) |
Complete sequencing of the SNCA gene |
| EARLY-ONSET PARKINSON DISEASE (PARK2) |
Complete sequencing of the PARK2 gene |
| AUTOSOMAL DOMINANT LEWY BODY PARKINSONISM (PARK4) |
Complete sequencing of the SNCA gene |
| MOWAT-WILSON SYNDROME |
Complete sequencing of the ZFHX1B gene |
| RETT SYNDROME |
Complete sequencing of the MECP2 gene |
| FRAGILE X SYNDROME (FRAX) |
CGG triplet-repeat expansion analysis of the FMR-1 gene |
| AUTOSOMAL RECESSIVE NONSYNDROMIC DEAFNESS |
Mutation screening of 35delG in the GJB2 (Connexin 26) gene |
| Complete sequencing of the GJB2 (Connexin 26) gene |
| Complete sequencing of the GJB6 (Connexin 30) gene |
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Hematological and Cardiovascular Disorders
| THROMBOPHILIA |
Mutation screening of G1691A (Arg506Gln) in the Factor V (Leiden) gene |
| Mutation screening of G20210A in the Prothrombin (Factor II) gene |
| Mutation screening of C677T (Ala222Val) and A1298C (Glu429Ala) in the MTHFR gene |
| Detection of 1bp Del/Ins polimorphism, 4G/5G in PAI1 gene, pasminogene activator inhibitor |
| Angiotensine enzime converter gene |
| FANCONI ANEMIA (COMPLEMENTATION GROUP A) |
Complete sequencing of the FANCA gene |
| FANCONI ANEMIA (COMPLEMENTATION GROUP C) |
Mutation screening of IVS4+4A-T in the FANCC gene |
| Complete sequencing of the FANCC gene |
| HEMOPHILIA A |
Intron 22 inversion mutation detection of the F8 gene |
| Complete sequencing of the F8 gene |
| HEMOPHILIA B |
Complete sequencing of the F9 gene |
| GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM TYPE 1 |
Analysis of the CYP11B1/CYP11B2 chimeric gene |
| MARFAN SYNDROME (ECTOPIA LENTIS) |
Complete sequencing of the FBN1 gene |
| CONGENITAL AMEGAKARYOCYTIC THROMBOCYTOPENIA |
Complete sequencing of the MPL gene |
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Metabolic Disorders
| COMBINED PITUITARY HORMONE DEFICIENCY |
Complete sequencing of the POU1F1 and PROP1 genes |
| MALE PSEUDOHERMAPHRODITISM DUE TO 5-ALPHA-REDUCTASE DEFICIENCY |
Complete sequencing of the SRD5A2 gene |
| ALPHA-1-ANTITRYPSIN DEFICIENCY |
Mutation screening of E264V (Allele S) and E342K (Allele Z) in the PI gene |
| FRUCTOSE-1,6-DIPHOSPHATASE DEFICIENCY |
Complete sequencing of the FBP1 gene |
| GROWTH HORMONE DEFICIENCY |
Complete sequencing of the GH1 gene |
| MYOADENYLATE DEAMINASE DEFICIENCY |
Complete sequencing of the AMPD1 gene |
| HEREDITARY HEMOCHROMATOSIS |
Mutation screening of C282Y, H63D and S65C in the HFE gene |
| FAMILIAL HYPERCHOLESTEROLEMIA |
Complete sequencing of the LDLR gene |
| Mutation screening of Arg3500Gln, Arg 3531Cys and Arg3480Trp in the APOB gene |
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 11-BETA-HYDROXYLASE DEFICIENCY |
Complete sequencing of the CYP11B1 gene |
| Most common mutations screening of the CYP11B1 gene |
| CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY |
Complete sequencing of the CYP21A2 gene |
| Most common mutations screening of the CYP21A2 gene |
| HOMOCYSTINURIA |
Mutation screening of Gly307Ser and Ile278Thr in the CBS gene |
| Mutation screening of C677T and A1298C in the MTHFR gene |
| ANDROGEN INSENSITIVITY SYNDROME |
Complete sequencing of the AR gene |
| GILBERT'S SYNDROME |
Mutation screening in the UGT1A1 gene |
| CEREBROTENDINOUS XANTHOMATOSIS |
Complete sequencing of the CYP27A1 gene |
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Muscular and Skeletal Disorders
| ACHONDROPLASIA |
Mutation screening of G1138A , G1138C and G375C in the FGFR3 gene |
| EARLY-ONSET TORSION DYSTONIA |
GAG deletion detection in the DYT1 gene |
| DOPA-RESPONSIVE DYSTONIA (DYT5) |
Complete sequencing of the GCH1 gene |
| MYOCLONUS-DYSTONIA (DYT11) |
Complete sequencing of the SGCE gene |
| RAPID-ONSET DYSTONIA-PARKINSONISM (DYT12) |
Complete sequencing of the ATP1A3 gene |
| MYOTONIC DYSTROPHY 1 ( STEINERT DISEASE ) |
CTG triplet-repeat expansion analysis of the PKDM gene |
| DUCHENNE/BECKER MUSCULAR DYSTROPHY |
Complete insertion / deletion analysis in the DMD gene |
| AMYOTROPHIC LATERAL SCLEROSIS (ALS1) |
Complete sequencing of the SOD1 gene |
| HYPOCHONDROPLASIA |
Mutation screening of I538V, N540T, N540S, N540K, K650N, K650M, K650Q in the FGFR3 gene |
| NEMALINE MYOPATHY TYPE 1 |
Complete sequencing of the TPM3 gene |
| NEMALINE MYOPATHY TYPE 2 |
Complete sequencing of the NEB gene |
| NEMALINE MYOPATHY TYPE 3 |
Complete sequencing of the ACTA1 gene |
| NEMALINE MYOPATHY TYPE 4 |
Complete sequencing of the TPM2 gene |
| OSTEOGENESIS IMPERFECTA |
Complete sequencing of the COL1A1 gene |
| Complete sequencing of the COL1A2 gene |
| OSTEOPETROSIS |
Complete sequencing of the OSTM1 gene |
| Complete sequencing of the TCIRG1 gene |
| Complete sequencing of the CLCN7 gene |
| OSTEOPOROSIS |
BsmI, ApaI, TaqI and FokI polymorphism detection in the VDR gene |
| Pro463Leu polymorphism detection in the CTR gene |
| PCOL2 (-1997 G/T) and Sp1 (1546 G/T) polymorphism detection in the COL1A1 gene |
| PvuII (397T>C) and XbaI (351C>G) polymorphism detection in the ESR1 gene |
| -572G-C and -174 G-C polymorphism detection in the IL-6 gene |
| HIGH-BONE-MASS DISEASE |
Mutation screening of G171V in the LRP5 gene |
| OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME |
Mutation screening of W10X, R428X, D490fs (1467delG), R570W, D718X, Q853X and E1270fs (3804delA) in the LRP5 gene |
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Reproductive Disorders
| MALE INFERTILITY: CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS (CBAVD) |
IVS8-Tn (poli-T) polymorphism detection in the CFTR gene |
| Detection of the 30 mutations of CFTR gene with major prevailance in Europe |
| MALE INFERTILITY: AZOOSPERMIA AND OLIGOSPERMIA |
Detection of 20 Y-chromosome microdeletions located in 20 STS of the long arm AZFa, AZFb, AZFc and SRY regions |
| PREECLAMPSIA ECLAMPSIA HELLP SYNDROME RECURRENT SPONTANEOUS PREGNANCY LOSS UNKNOWN CAUSE PREGNANCY LOSS |
Mutation screening of G1691A (Arg506Gln) in the Factor V gene |
| Mutation screening of G20210A in the Factor II gene |
| Mutation screening of C677T (Ala222Val) and A1298C (Glu429Ala) in the MTHFR gene |
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Neoplastic Disorders
| BREAST/OVARIAN CANCER |
Mutation screening in exons 2, 3, 5, 8, 11, 18, 20 and 23 of the BRCA1 gene |
| Complete sequencing of the BRCA1 gene |
| Mutation screening in exons 2, 10, 11 and 23 of the BRCA2 gene |
| Complete sequencing of the BRCA2 gene |
| HEREDITARY NONPOLYPOSIS COLON CANCER TYPE 1 (HNPCC1) - LYNCH SYNDROME 1 |
Microsatelites instability research |
| Complete sequencing of the MSH2 gene |
| HEREDITARY NONPOLYPOSIS COLON CANCER TYPE 2 (HNPCC2) - LYNCH SYNDROME 2 |
Microsatellite instability analysis |
| Complete sequencing of the MLH1 gene |
| MEDULLARY THYROID CARCINOMA |
Mutation screening in exons 10, 11, 13, 14 and 16 of the RET gene |
| Complete sequencing of the RET gene |
| COWDEN'S DISEASE |
Complete sequencing of the PTEN/MMAC1 gene |
| GENETIC INSTABILITY |
Microsatelites instability determination by BAT25 markers; and the additional monomorphic NR21 markers |
| CUTANEOUS MALIGNANT MELANOMA 2 (CMM2) |
Complete sequencing of the CDKN2A gene |
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1) |
Complete sequencing of the MEN1 gene |
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 (MEN2) |
Complete sequencing of the RET gene |
| NEUROFIBROMATOSIS TYPE 1 |
Complete sequencing of the NF1 gene |
| NEUROFIBROMATOSIS TYPE 2 |
Complete sequencing of the NF2 gene |
| BRAF ONCOGENE |
Complete sequencing of the BRAF oncogene |
| K-RAS ONCOGENE |
Complete sequencing of the K-RAS oncogene |
| FAMILIAL PARAGANGLIOMA TYPE 1 |
Complete sequencing of the SDHD gene |
| MALIGNANT PARAGANGLIOMA |
Complete sequencing of the SDHB gene |
| FAMILIAL ADENOMATOUS POLYPOSIS (FAP) |
Complete sequencing of the APC gene |
| COLORECTAL POLYPOSIS |
Complete sequencing of the MUTYH (MYH) gene |
| RETINOBLASTOMA |
Complete sequencing of the RB1 gene |
| DIGEORGE'S SYNDROME |
22q11.2 deletion analysis |
| LI-FRAUMENI'S SYNDROME |
Complete sequencing of the p53 gene |
| VON HIPPEL-LINDAU'S SYNDROME |
Complete sequencing of the VHL gene |
| AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME |
Complete sequencing of the FAS gene |
| WILMS' TUMOUR |
Complete sequencing of the WT1 gene |
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Multisystemic Disorders
| CYSTIC FIBROSIS |
Detection of the 30 more prevalent European mutations of the CFTR gene |
| Complete sequencing of the CFTR gene |
| IVS8-Tn (poli-T) polymorphism detection in the CFTR gene |
| POLYCYSTIC KIDNEY DISEASE |
Complete sequencing of the PKD1 gene |
| Complete sequencing of the PKD2 gene |
| NOONAN SYNDROME (SN1) |
Complete sequencing of the PTPN11 gene |
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Pharmacogenetics
| BREAST CANCER |
HER2 (NEU) overexpression detection and Herceptin (trastuzumab) treatment |
| NON-SMALL CELL LUNG CANCER (NSCLC) |
Mutation screening in exons 18-21 of the EGFR gene and Gefinitib treatment |
| CYP2D6 |
Polymorphism screening of the CYP2D6 gene linked to psychiatric and cardiovascular disorders treatment. This gene is involved in metabolizing different drugs such as, Prozac, Zoloft, Haldol, Metoprolol, Tagamet, Tamoxifen, Paxil, Effexor, Hydrocodona, Amitryptilin, Claritin, Cyclobenzaprine, Allegra, Dytuss, Tusstat, Rythmol |
| CYP2C9 |
Polymorphism screening of the CYP2C9 gene linked to thrombosis, diabetes and other disorders treatment. This gene is involved in metabolizing different drugs such as, Coumadina (Warfarina), Viagra, Amaryl, Isoniazida, Sulfa, Ibuprofeno, Amitriptilina, Dilantina, Hyzaar, Tetrahidrocannabinol, Naproxeno |
| CYP2C19 |
Polymorphism screening of the CYP2C19 gene linked to psiquiatrical diseases, epilepsies, malaria and anesthesia. This gene is involved in metabolizing different drugs: Carisoprodol, Diazepam, Dilantin, Premarin y Prevacid |
| ABACAVIR HYPERSENSIBILITY |
HLA-B*5701 haplotype determination |
| CHRONIC MYELOIDE LEUKEMIA |
Mutation screening in exons 4-10 of the ABL gene, for the treatment with Gleevec (Imatinib) |
| ACUTE MYELOIDE LEUKEMIA |
Mutation screening in exons 8,11 and 17 of the KIT (CD117) gene, for the treatment with Gleevec (Imatinib) |
| Mutation screening in exons 14 and 20 of the FLT3 gene, including ASP835 (FLT3 inhibitors) |
| MASTOCYTOSIS |
Mutation screening in exon 17 of the KIT gene (CD117), for the treatment with Gleevec/ Imatinib |
| 5-FLUOROURACIL TOXICITY |
Allele 2A (IVS14+1G-A) determination in the DPD gene |
| Alleles 3, 7, 8, 9 and 10 determination in the DPD gene |
| IRINOTECAN TOXICITY (UGT1A1) |
TA insertion determination in the UGT1A1 gene promoter |
| TPMT (THIOPURINES TOXICITY) |
For the treatment of thrombosis, diabetes and a variety of diseases. The TPMT gene is associated to the different tiopurines metabolism: azatioprina (Imuran) 6-mercaptopurina (Purinetol) and 6-tioguanina (Lanvis) |
| GASTROINTESTINAL STROMAL TUMOR (GIST) |
Mutation screening in exons 9, 11, 13 and 17 of the KIT (CD117) gene, for the treatment with Gleevec (Imatinib) |
| Mutation screening in exons 12 and 18 of the PDGFRA gen, for the treatment with Gleevec (Imatinib) |
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Mitochondrial Disorders
| LEBER HEREDITARY OPTIC |
Mutation screening of G11778A, T14484C and G3460GA |
| Mutation screening in the regions MTND1, MTND2, MTND4, MTND5 MTND6 |
| NEUROPATHY, ATAXIA AND RETINITIS PIGMENTOSA (NARP) |
Mutation screening of T8993G and T8993C in the MTATP6 gene |
| MELAS SYNDROME |
Mutation screening of A3243G, C3256T, A3252G, C3093G, G3244A, T3258C, T3271C and T3291C in the MTTL1 gene |
| MERRF SYNDROME |
Mutation screening of A8344G, T8356C, G8363A, A8296G and G8361A in the MTTL1 gene |
| LEIGH'S SYNDROME OF MATERNAL HEREDITARY |
Mutation screening of T8993G and T8993C in the MTATP6 gene |
| MATERNAL HEREDITARY DEAFNESS |
Mutation screening of A1555G, A827G, T961C, T961insC, T961delT+C(n)ins, T1005C, A1116G and C1494T in the MTRNR1 gene |
| Mutation screening of T7445C and A7443G in the MTCO1 gene |
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