Additional Molecular Tests

Gene Gene OMIM Disease Disease OMIM Comment Price in Euro ACAD9 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9) 611103 ACAD9 DEFICIENCY » ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF 611126   2300 ALG6 (ALG6, S. CEREVISIAE, HOMOLOG OF) 604566 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C, CDG1C » CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY » CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 5, FORMERLY 603147   1100 ALG8 (ALG8, S. CEREVISIAE, HOMOLOG OF) 608103 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1H, CDG1H 608104   1000 ALG9 (ALG9, S. CEREVISIAE, HOMOLOG OF) 606941 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1L, CDG1L 608776   1100 ALG12 (ALG12, S. CEREVISIAE, HOMOLOG OF; ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG OF; DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE) 607144 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1G, CDG1G 607143   700 AMPD1 (AMP DEAMINASE) 102770 MYOADENYLATE DEAMINASE DEFICIENCY 102770 Whole Gene Sequencing 1600 AP1S2 (ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1-LIKE) 300629 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 59, MRX59 300630   480 ASAH1 (N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; N-ACYLSPHINGOSINE DEACYLASE; ACID CERAMIDASE) 613468 FARBER LIPOGRANULOMATOSIS » CERAMIDASE DEFICIENCY » N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY 228000   Upon Request ASPM (ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; MCPH5) 605481 MICROCEPHALY, PRIMARY, TYPE 5 (AUTOSOMAL RECESSIVE), MCPH5 608716   2000 ATP1A3 (ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; SODIUM-POTASSIUM-ATPase) 182350 DYSTONIA, TYPE 12, DYT12 128235 Whole Gene Sequencing or 6 Exons Whole Gene: 1700 Exons: 600 ATP6V0A2 (ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2) 611716 WRINKLY SKIN SYNDROME 278250   1600 CUTIS LAXA, TYPE 2A (AUTOSOMAL RECESSIVE) » CUTIS LAXA, DEBRE TYPE 219200   1600 B4GALT1 (UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1; BETA-1,4-GALACTOSYLTRANSFERASE 1) 137060 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2D, CDG2D 607091   700 CFHR5 (COMPLEMENT FACTOR H-RELATED 5) 608593 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 6 612926   500 COG7 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7) 606978 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2E, CDG2E 608779   1500 COG8 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8) 606979 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H 611182   550 DLD (DIHYDROLIPOAMIDE DEHYDROGENASE; BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT; PYRUVATE DEHYDROGENASE COMPONENT E3; GLYCINE CLEAVAGE SYSTEM L PROTEIN) 238331 MAPLE SYRUP URINE DISEASE » BRANCHED-CHAIN KETOACIDURIA » BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY » KETO ACID DECARBOXYLASE DEFICIENCY » LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO 248600   1800 DPAGT1 (DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE-PHOSPHOTRANSFERASE) 191350 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1J, CDG1J 608093   950 DPM1 (DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE ) 603503 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1E, CDG1E 608799   800 EHMT1 (EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EUHMTASE1) 607001 KLEEFSTRA SYNDROME » CHROMOSOME 9q34.3 DELETION SYNDROME 610253   2200 EP300 (E1A-BINDING PROTEIN, 300-KD) 602700 RUBINSTEIN-TAYBI SYNDROME » BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION » BROAD THUMB-HALLUX SYNDROME 180849   900 ESCO2 (ESTABLISHMENT OF COHESION 1, S. CEREVISIAE, HOMOLOG OF, 2) 609353 ROBERTS SYNDROME 268300   1300 SC PHOCOMELIA SYNDROME » SC PSEUDOTHALIDOMIDE SYNDROME 269000   1300 GALE (UDP-GALACTOSE-4-EPIMERASE; GALACTOSE EPIMERASE) 606953 GALACTOSE EPIMERASE DEFICIENCY » GALE DEFICIENCY » GALACTOSEMIA, TYPE 3 » UDP-GALACTOSE-4-EPIMERASE DEFICIENCY 230350   850 GAS1 (GROWTH ARREST-SPECIFIC 1) 139185 HOLOPROSENCEPHALY 1, HPE1 236100   500 GCS1 (GLUCOSIDASE 1) 601336 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2B, CDG2B » GLUCOSIDASE 1 DEFICIENCY 606056   640 IL1RAPL1 (INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; INTERLEUKIN 1 RECEPTOR 8) 300206 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 21, MRX21 » MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 34, MRX34 300143   850 ITGA7 (INTEGRIN, ALPHA-7) 600536 MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY » MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY 613204   1900 LARGE (ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN ;LIKE-GLYCOSYLTRANSFERASE) 603590 MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D 608840   1100 WALKER-WARBURG SYNDROME » HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA » HARD SYNDROME » PAGON SYNDROME 236670   1100 MAN2B1 (MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MANB) 609458 ALPHA MANNOSIDOSIS 248500   2000 MGAT2 (ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE) 602616 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2A, CDG2A 212066   300 MLYCD (MALONYL-CoA DECARBOXYLASE) 606761 MALONYL-CoA DECARBOXYLASE DEFICIENCY 248360   600 MPDU1 (MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1) 609458 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1F, CDG1F 609180   550 MPI (MANNOSEPHOSPHATE ISOMERASE; PHOSPHOMANNOSE ISOMERASE 1) 604041 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B, CDG1B » SAGUENAY-LAC SAINT-JEAN SYNDROME, SLSJ SYNDROME » MANNOSEPHOSPHATE ISOMERASE DEFICIENCY » PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME 602579   600 NPHP1, NPHP2, NPHP3, NPHP4 NEPHRONOPHTHISIS . 4 Genes 3000 NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; STEROIDOGENIC FACTOR 1; SF1) 184757 46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE 612965   800 PREMATURE OVARIAN FAILURE 7, POF7 612964   800 ADRENOCORTICAL INSUFFICIENCY     800 OPA3 606580 OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE) » OPTIC ATROPHY PLUS SYNDROME » COSTEFF SYNDROME » 3-@METHYLGLUTACONIC ACIDURIA, TYPE 3 258501   650 OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL DOMINANT) 165300   650 PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) 610355 FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN 610832   880 BREAST CANCER     880 PANCREATIC CANCER, SUSCEPTIBILITY TO, TYPE 3 613348   880 PHF6 (PHD FINGER PROTEIN 6) 300414 BORJESON-FORSSMAN-LEHMANN SYNDROME 301900   800 PMM2 (PHOSPHOMANNOMUTASE 2) 601785 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, CDG1A » JAEKEN SYNDROME » CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 1A » PHOSPHOMANNOMUTASE 2 DEFICIENCY 212065   850 PRKCSH (PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN; GLUCOSIDASE II, BETA SUBUNIT; HEPATOCYSTIN) 177060 POLYCYSTIC LIVER DISEASE 174050   1200 RECQL3 (RECQ2) 604610 BLOOM SYNDROME » (See also Molecular Screening Tests) 210900 Whole Gene Sequencing 2400 RFT1 (RFT1, S. CEREVISIAE, HOMOLOG OF) 611908 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1N, CDG1N 612015   1600 SEC63 (SEC63, S. CEREVISIAE, HOMOLOG OF) 608648 POLYCYSTIC LIVER DISEASE 174050   1500 SEPN1 (SELENOPROTEIN N, 1; SELN) 606210 RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1 » MULTICORE MYOPATHY, SEVERE CLASSIC FORM » MINICORE MYOPATHY, SEVERE CLASSIC FORM » DESMIN-RELATED MYOPATHY WITH MALLORY BODIES » MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE 602771   1000 SLC35A1 (SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1; CYTIDINE MONOPHOSPHATE-SIALIC ACID TRANSPORTER) 605634 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2F, CDG2F 603585   850 SLC35C1 (SOLUTE CARRIER FAMILY 35, MEMBER C1;GDP-FUCOSE TRANSPORTER 1) 605881 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C, CDG2C » LEUKOCYTE ADHESION DEFICIENCY, TYPE 2C » RAMBAM-HASHARON SYNDROME 266265   400 THBD (THROMBOMODULIN) 188040 THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT 188040   500 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 6 612926   500 TMEM126A (TRANSMEMBRANE PROTEIN 126A) 612988 OPTIC ATROPHY, TYPE 7, OPA7 612989   700 TRIM32 (TRIPARTITE MOTIF-CONTAINING PROTEIN 32) 602290 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, LGMD2H 254110   550 TUBA1A (TUBULIN, ALPHA-1A) 602529 LISSENCEPHALY 3, LIS3 611603   800 TUSC3 (TUMOR SUPPRESSOR CANDIDATE 3) 601385 MENTAL RETARDATION (AUTOSOMAL RECESSIVE), TYPE 7, MRT7 611093   950 VPS33B (VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B) 608552 ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ARC SYNDROME 208085   800 WNT10A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 10A) 606268 ODONTOONYCHODERMAL DYSPLASIA 257980   750 SCHOPF-SCHULZ-PASSARGE SYNDROME » KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS 224750   750