Inborn Errors of Metabolism – Duzen Laboratories Group Genetic Diseases Evaluation Center

Genetic TestsCystinosis CTNS Gene Testing

Test Name & Code: • Test Name: Cystinosis CTNS Gene Testing • Test Code: 5746 Related Diseases & Genes: • “Cystinosis, atypical nephropathic” (OMIM #: 219800) || Gene: CTNS (OMIM #: 606272) • “Cystinosis, late-onset juvenile or adolescent nephropathic” (OMIM #: 219800) • “Cystinosis, nephropathic” (OMIM #: 219800) • “Cystinosis, ocular nonnephropathic” (OMIM #: 219800)...

Genetic TestsALPL Gene Deletion/Duplication Analysis

Test Name & Code: • Test Name: ALPL Gene Deletion/Duplication Analysis • Test Code: 5649 Related Diseases & Genes: • “Hypophosphatasia, adult” (OMIM #: 146300) || Gene: ALPL (OMIM #: 171760) • “Hypophosphatasia, childhood” (OMIM #: 241510) • “Hypophosphatasia, infantile” (OMIM #: 241500) • Odontohypophosphatasia (OMIM #: 146300) Synonyms: • “ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE” •...

Genetic TestsCYP27A1 Gene Deletion/Duplication Analysis

Test Name & Code: • Test Name: CYP27A1 Gene Deletion/Duplication Analysis • Test Code: 5648 Related Diseases & Genes: • CEREBROTENDINOUS XANTHOMATOSIS (OMIM #: 213700) || Gene: CYP27A1 (OMIM #: 606530) Synonyms: • CEREBRAL CHOLESTERINOSIS • CYP27 • STEROL 27-HYDROXYLASE Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

Genetic TestsMucopolysaccharidosis Type VI (ARSB Gene)

Test Name & Code: • Test Name: Mucopolysaccharidosis Type VI (ARSB Gene) • Test Code: 5529 Related Diseases & Genes: • Mucopolysaccharidosis Type VI (OMIM #: 253200) || Gene: ARSB (OMIM #: 611542) Synonyms: • ARYLSULFATASE B • MAROTEAUX-LAMY SYNDROME • MPS VI • ARYLSULFATASE B DEFICIENCY • ARSB DEFICIENCY • N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY Test Details:...

Genetic TestsCYP21A2 Deletion/Duplication Analysis

Test Name & Code: • Test Name: CYP21A2 Deletion/Duplication Analysis • Test Code: 4832 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815) • “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910) Synonyms: • “Cytochrome P450, Family 21, Subfamily A, Polypeptide...

Genetic TestsTay-Sachs Disease Genetic Test (HEXA Gene)

Test Name & Code: • Test Name: Tay-Sachs Disease Genetic Test (HEXA Gene) • Test Code: 4827 Related Diseases & Genes: • Tay-Sachs disease (OMIM #: 272800) || Gene: HEXA (OMIM #: 606869) • “GM2-gangliosidosis, several forms” (OMIM #: 272800) Synonyms: • Hexosaminidase A • HEXA Mutations • Hexosaminidase A Mutations Test Details: • Methodology:...

Genetic TestsBiotinidase Deficiency (BTD Gene)

Test Name & Code: • Test Name: Biotinidase Deficiency (BTD Gene) • Test Code: 4823 Related Diseases & Genes: • Biotinidase deficiency (OMIM #: 253260) || Gene: BTD (OMIM #: 609019) Synonyms: • Biotinidase • Multiple Carboxylase Deficiency • BTD Gene Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 1 week...

Genetic TestsAR Deletion/Duplication Analysis

Test Name & Code: • Test Name: AR Deletion/Duplication Analysis • Test Code: 4822 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar muscular atrophy...

Genetic TestsGalactosemia Genetic Analysis (GALT Gene)

Test Name & Code: • Test Name: Galactosemia Genetic Analysis (GALT Gene) • Test Code: 4821 Related Diseases & Genes: • Galactosemia (OMIM #: 230400) || Gene: GALT (OMIM #: 606999) Synonyms: • Galactose-1-Phosphate Uridylyltransferase Deficiency • Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis • GALT Mutation Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

Genetic TestsCarnitine Palmitoyltransferase II Deficiency

Test Name & Code: • Test Name: Carnitine Palmitoyltransferase II Deficiency • Test Code: 4788 Related Diseases & Genes: • “CPT deficiency, hepatic, type II” (OMIM #: 600649) || Gene: CPT2 (OMIM #: 600650) • “CPT II deficiency, lethal neonatal” (OMIM #: 608836) • Myopathy due to CPT II deficiency (OMIM #: 255110) • “Encephalopathy,...

Genetic TestsGALT Deletion/Duplication Analysis

Test Name & Code: • Test Name: GALT Deletion/Duplication Analysis • Test Code: 4780 Related Diseases & Genes: • Galactosemia (OMIM #: 230400) || Gene: GALT (OMIM #: 606999) Synonyms: • Galactose-1-Phosphate Uridylyltransferase Deficiency • Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: •...

Genetic TestsWhole Exome Sequencing (WES)

Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...

Genetic TestsFatty Acid Oxidation Disorders Gene Panel

Test Name & Code: • Test Name: Fatty Acid Oxidation Disorders Gene Panel • Test Code: 4695 Related Diseases & Genes: • “Short-chain acyl-CoA dehydrogenase (SCAD) deficiency, Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, Trifunctional protein deficiency, Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency,Iinfantile Carnitine palmitoyl transferase deficiency type II (CPT-II), Lethal Neonatal...

Genetic TestsPeroxisomal Disorders Gene Panel

Test Name & Code: • Test Name: Peroxisomal Disorders Gene Panel • Test Code: 4694 Related Diseases & Genes: • “X-linked adrenoleukodystrophy, Zellweger; peroxisome biogenesis disorder Type 1A, 2A,2B,3A,3B,4A,4B,5A,5B,6B,7A,7B,8A,8B,9B,10A,11A,11B,12A,13A,14B, D-bifunctional enzyme deficiency; Perrault syndrome, Refsum disease, Rhizomelic chondrodysplasia punctate, type 1,2,3,5, Acatalasemia, Acyl-CoA oxidase deficiency, Adrenoleukodystrophy-like/related, Alpha-methylacyl-CoA racemase deficiency, Glutaric aciduria III, Heimler syndrome III,...

Genetic TestsGlycogen Storage Diseases Gene Panel

Test Name & Code: • Test Name: Glycogen Storage Diseases Gene Panel • Test Code: 4693 Related Diseases & Genes: • “Glycogen storage disease type III, Glycogen storage disease XII, Glycogen storage disease XIII, Lafora progressive myoclonus epilepsy, Glycogen storage disease type Ia, mitochondrial, Pompe disease-glycogen storage disease type II, Glycogen storage disease type IV-adult...

Genetic TestsLysosomal Storage Diseases Gene Panel

Test Name & Code: • Test Name: Lysosomal Storage Diseases Gene Panel • Test Code: 4692 Related Diseases & Genes: • “Lysosomal acid phosphatase deficiency (ACPHD),Aspartylglucosaminuria (AGU), Metachromatic leukodystrophy,Mucopolysaccharidosis Type VI, Multiple sulfatase deficiency, Farber lipogranulomatosis,Chitotriosidase deficiency (with Gaucher 1), Cystinosis, Galactosialidosis, Fucosidosis, Pompe disease-glycogen storage disease type II, Krabbe disease, Mucopolysaccharidosis Type IVA, Morquio...

Genetic TestsNoronal Ceroid Lipofuscinosis (NCL) Genetic Panel

Test Name & Code: • Test Name: Noronal Ceroid Lipofuscinosis (NCL) Genetic Panel • Test Code: 4691 Related Diseases & Genes: • “NCL1, 2,3,4,5,6,7,8,10,11,12,13,14, HARP syndrome, Pycnodysostosis ” (OMIM #: 256730 204500 204200 162350 256731 601780 610951 600143 610127 614706 606693 615362 611726 606157 265800) || Gene: “ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, CTSK,...

Genetic TestsPAH Deletion/Duplication Analysis

Test Name & Code: • Test Name: PAH Deletion/Duplication Analysis • Test Code: 4662 Related Diseases & Genes: • Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349) Synonyms: • PKU Genetic Analysis • Phenylalanine Hydroxylase Gene Deficiency • PAH Mutations Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen...

Genetic TestsPROP1 Deletion/Duplication Analysis

Test Name & Code: • Test Name: PROP1 Deletion/Duplication Analysis • Test Code: 4600 Related Diseases & Genes: • “Pituitary hormone deficiency, combined, 2” (OMIM #: 262600) || Gene: PROP1 (OMIM #: 601538) Synonyms: -none- Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic Tests5 Alpha Reductase Deletion/Duplication Analysis

Test Name & Code: • Test Name: 5 Alpha Reductase Deletion/Duplication Analysis • Test Code: 4389 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase Test Details: • Methodology: MLPA • Performed: Everyday • Reported: 3 weeks Specimen...

Genetic TestsHypophosphatasia ALPL Gene Sequencing

Test Name & Code: • Test Name: Hypophosphatasia ALPL Gene Sequencing • Test Code: 4067 Related Diseases & Genes: • “Hypophosphatasia, adult” (OMIM #: 146300) || Gene: ALPL (OMIM #: 171760) • “Hypophosphatasia, childhood” (OMIM #: 241510) • “Hypophosphatasia, infantile” (OMIM #: 241500) • Odontohypophosphatasia (OMIM #: 146300) Synonyms: • “ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE” •...

Genetic TestsWolman LIPA Gene Sequencing

Test Name & Code: • Test Name: Wolman LIPA Gene Sequencing • Test Code: 4066 Related Diseases & Genes: • Cholesteryl ester storage disease (OMIM #: 278000) || Gene: LIPA (OMIM #: 613497) • Wolman disease (OMIM #: 278000) Synonyms: • LYSOSOMAL ACID LIPASE • LAL • CHOLESTEROL ESTER HYDROLASE Test Details: • Methodology: DNA...

Genetic TestsHUNTER IDS Gene Sequencing

Test Name & Code: • Test Name: HUNTER IDS Gene Sequencing • Test Code: 4056 Related Diseases & Genes: • Mucopolysaccharidosis II (OMIM #: 309900) || Gene: IDS (OMIM #: 300823) Synonyms: • HUNTER SYNDROME • MPS II • IDURONATE 2-SULFATASE DEFICIENCY • IDS DEFICIENCY • SULFOIDURONATE SULFATASE DEFICIENCY • SIDS DEFICIENCY Test Details: •...

Genetic TestsGAUCHER GBA Gene Sequencing

Test Name & Code: • Test Name: GAUCHER GBA Gene Sequencing • Test Code: 4054 Related Diseases & Genes: • “Gaucher disease, type I” (OMIM #: 230800) || Gene: GBA (OMIM #: 606463) • “Gaucher disease, type II” (OMIM #: 230900) • “Gaucher disease, type III” (OMIM #: 231000) • “Gaucher disease, type IIIC” (OMIM...

Genetic TestsCYP27A1 Sequencing

Test Name & Code: • Test Name: CYP27A1 Sequencing • Test Code: 4026 Related Diseases & Genes: • CEREBROTENDINOUS XANTHOMATOSIS (OMIM #: 213700) || Gene: CYP27A1 (OMIM #: 606530) Synonyms: • CEREBRAL CHOLESTERINOSIS • CYP27 • STEROL 27-HYDROXYLASE Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen...

Genetic TestsAVPR2 Sequencing

Test Name & Code: • Test Name: AVPR2 Sequencing • Test Code: 4016 Related Diseases & Genes: • “Diabetes insipidus, nephrogenic” (OMIM #: 34800) || Gene: AVPR2 (OMIM #: 300538) • Nephrogenic syndrome of inappropriate antidiuresis (OMIM #: 300539) Synonyms: • ARGININE VASOPRESSIN RECEPTOR 2 • ANTIDIURETIC HORMONE RECEPTOR; ADHR • VASOPRESSIN V2 RECEPTOR; V2R...

Genetic TestsFabry Syndrome (GLA Gene Sequence Analysis)

Test Name & Code: • Test Name: Fabry Syndrome (GLA Gene Sequence Analysis) • Test Code: 4006 Related Diseases & Genes: • Fabry Disease (OMIM #: 301500) || Gene: GLA (OMIM #: 300644) Synonyms: • Alpha-Galactosidase A Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen Details: • Specimen Collection:...

Genetic TestsGlutaric Acidemia I

Test Name & Code: • Test Name: Glutaric Acidemia I • Test Code: 3770 Related Diseases & Genes: • Glutaric acidemia I (OMIM #: 231670) || Gene: GCDH (OMIM #: 608801) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container:...

Genetic TestsCongenital Glycosylation defect Type 1A

Test Name & Code: • Test Name: Congenital Glycosylation defect Type 1A • Test Code: 3646 Related Diseases & Genes: • “CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A” (OMIM #: 212065) || Gene: PMM2 (OMIM #: 601785) Synonyms: • CDG Ia; CDGIa • JAEKEN SYNDROME • PHOSPHOMANNOMUTASE 2 DEFICIENCY • “CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia,...

Genetic TestsNiemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes)

Test Name & Code: • Test Name: Niemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes) • Test Code: 3630 Related Diseases & Genes: • “Niemann-Pick disease, type C1” (OMIM #: 257220)|| Gene: NPC1 (OMIM #: 607623) • “Niemann-Pick disease, type D” (OMIM #: 257220)|| Gene: NPC2 (OMIM #: 601015) • “Niemann-pick disease, type C2” (OMIM #:...

Genetic TestsGM1-Gangliosidosis (GLB1 Gene)

Test Name & Code: • Test Name: GM1-Gangliosidosis (GLB1 Gene) • Test Code: 3629 Related Diseases & Genes: • GM1-gangliosidosis (OMIM #: 230500) || Gene: GLB1 (OMIM #: 611458) Synonyms: • Morquio Disease Type B • MUCOPOLYSACCHARIDOSIS TYPE IVB Test Details: • Methodology: DNA Sequencing • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsSHOX Deletion

Test Name & Code: • Test Name: SHOX Deletion • Test Code: 3621 Related Diseases & Genes: • Langer mesomelic dysplasia (OMIM #: 249700) || Gene: SHOX (OMIM #: 312865) • Leri-Weill dyschondrosteosis (OMIM #: 127300) • Short stature, idiopathic familial (OMIM #: 300582) Synonyms: • SHORT STATURE HOMEOBOX Test Details: • Methodology: FISH •...

Genetic TestsAR (Androgen Receptor ) Analysis

Test Name & Code: • Test Name: AR (Androgen Receptor ) Analysis • Test Code: 3569 Related Diseases & Genes: • Androgen insensitivity (OMIM #: 300068) || Gene: AR (OMIM #: 313700) • “Androgen insensitivity, partial, with or without breast cancer” (OMIM #: 312300) • “Hypospadias 1, X-linked” (OMIM #: 300633) • Spinal and bulbar...

Genetic TestsGlycogen Storage Disease Ia G6PC Gene Testing

Test Name & Code: • Test Name: Glycogen Storage Disease Ia G6PC Gene Testing • Test Code: 3566 Related Diseases & Genes: • GLYCOGEN STORAGE DISEASE Ia (OMIM #: 232200) || Gene: G6PC (OMIM #: 613742) Synonyms: • GSD Ia • GLYCOGEN STORAGE DISEASE I; GSD1 • VON GIERKE DISEASE • HEPATORENAL FORM OF GLYCOGEN...

Genetic TestsMetachromatic Leukodystrophy (ARSA1 Gene)

Test Name & Code: • Test Name: Metachromatic Leukodystrophy (ARSA1 Gene) • Test Code: 3442 Related Diseases & Genes: • Metachromatic Leukodystrophy (OMIM #: 250100)|| Gene: ARSA (OMIM #: 607574) Synonyms: • MLD • ARYLSULFATASE A Gene Sequence Analysis • ARSA Gene Sequence Analysis Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...

Genetic TestsSmith-Lemli-Opitz Syndrome

Test Name & Code: • Test Name: Smith-Lemli-Opitz Syndrome • Test Code: 3440 Related Diseases & Genes: Gene: DHCR7 (OMIM #: 602858) Synonyms: • SLOS Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: 5-10 ml...

Genetic TestsRET Mutations

Test Name & Code: • Test Name: RET Mutations • Test Code: 3404 Related Diseases & Genes: • Multiple endocrine neoplasia IIA (OMIM #: 171400) || Gene: RET (OMIM #: 164761) • Multiple endocrine neoplasia IIB (OMIM #: 162300) • Medullary thyroid carcinoma (OMIM #: 155240) Synonyms: • Rearranged During Transfection Protooncogene • RET Protooncogene...

Genetic TestsFucosidosis FUCA1 Gen Analizi

Test Name & Code: • Test Name: Fucosidosis FUCA1 Gen Analizi • Test Code: 3384 Related Diseases & Genes: • Fucosidosis (OMIM #: 230000) || Gene: FUCA1 (OMIM #: 612280) Synonyms: • ALPHA-L-FUCOSIDASE DEFICIENCY • ALPHA-L-FUCOSIDASE 1 • “FUCOSIDASE, ALPHA-L, TISSUE; FUCA” Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks...

Genetic TestsCitrullinemia Type I Genetic Testing

Test Name & Code: • Test Name: Citrullinemia Type I Genetic Testing • Test Code: 3379 Related Diseases & Genes: • Classic Citrullinemia (OMIM #: 215700) || Gene: ASS1 (OMIM #: 603470) Synonyms: • CITRULLINEMIA, TYPE I; CTLN1 • CITRULLINURIA • ARGININOSUCCINATE SYNTHETASE DEFICIENCY • ASS DEFICIENCY Test Details: • Methodology: DNA Sequencing • Performed:...

Genetic TestsCongenital Adrenal Hypoplasia Mutation Analysis

Test Name & Code: • Test Name: Congenital Adrenal Hypoplasia Mutation Analysis • Test Code: 3376 Related Diseases & Genes: • “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200) || Gene: NR0B1 (OMIM #: 300473) • “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018) Synonyms: • DAX1 • “46,XY SEX REVERSAL, DAX1-RELATED”...

Genetic TestsCongenital Adrenal Hypoplasia Deletion Analysis

Test Name & Code: • Test Name: Congenital Adrenal Hypoplasia Deletion Analysis • Test Code: 3371 Related Diseases & Genes: • “ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM; AHCH” (OMIM #: 300200)|| Gene: NR0B1 (OMIM #: 300473) • “46,XY SEX REVERSAL 2; SRXY2” (OMIM #: 300018) Synonyms: • DAX1 • “46,XY SEX REVERSAL, DAX1-RELATED” • DOSAGE-SENSITIVE...

UncategorizedPhenylketonuria Gene Sequence Analysis (PAH Gene)

Test Name & Code: • Test Name: Phenylketonuria Gene Sequence Analysis (PAH Gene) • Test Code: 3370 Related Diseases & Genes: • Phenylketonuria (OMIM #: 261600) || Gene: PAH (OMIM #: 612349) Synonyms: • PKU Genetic Analysis • Phenylalanine Hydroxylase Gene Deficiency • PAH Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday...

Genetic TestsAMHR Genetic Analysis

Test Name & Code: • Test Name: AMHR Genetic Analysis • Test Code: 3334 Related Diseases & Genes: • “Persistent Mullerian duct syndrome, type II” (OMIM #: 261550) || Gene: AMHR2 (OMIM #: 600956) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsAMH Genetic Analysis

Test Name & Code: • Test Name: AMH Genetic Analysis • Test Code: 3329 Related Diseases & Genes: • “Persistent Mullerian duct syndrome, type I” (OMIM #: 261550) || Gene: AMH (OMIM #: 600957) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral...

Genetic TestsPROP1 Genetic Analysis

Test Name & Code: • Test Name: PROP1 Genetik Test • Test Code: 3328 Related Diseases & Genes: • Pituitary hormone deficiency, combined, 2 (OMIM #: 262600) || Gene: PROP1 (OMIM #: 601538) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood...

Genetic Tests11-Beta-Hydroxylase Gene (CYP11B1) Mutations

Test Name & Code: • Test Name: 11-Beta-Hydroxylase Gene (CYP11B1) Mutations • Test Code: 3312 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency” (OMIM #: 202010) || Gene: CYP11B1 (OMIM #: 610613) • “Aldosteronism, glucocorticoid-remediable” (OMIM #: 103900) Synonyms: • “Cytochrome P450, Subfamily XIB, Polypeptide 1” • 11-beta-hydroxylase deficiency • CYP11B1...

Genetic TestsCongenital Adrenal Hyperplasia (CYP21A2 Gene)

Test Name & Code: • Test Name: Congenital Adrenal Hyperplasia (CYP21A2 Gene) • Test Code: 3267 Related Diseases & Genes: • “Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency” (OMIM #: 201910) || Gene: CYP21A2 (OMIM #: 613815) • “Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency” (OMIM #: 201910) Synonyms: • “Cytochrome P450, Family 21, Subfamily...

Genetic TestsPOMPE Genetic Analysis

Test Name & Code: • Test Name: POMPE Genetic Analysis • Test Code: 3258 Related Diseases & Genes: • Glycogen storage disease II (OMIM #: 232300) || Gene: GAA (OMIM #: 606800) Synonyms: -none- Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 4 weeks Specimen Details: • Specimen Collection: Peripheral blood •...

Genetic TestsCanavan Disease Genetic Analysis (ASPA Gene)

Test Name & Code: • Test Name: Canavan Disease Genetic Analysis (ASPA Gene) • Test Code: 3193 Related Diseases & Genes: • Canavan disease (OMIM #: 271900) || Gene: ASPA (OMIM #: 608034) Synonyms: • Aspartoacylase Deficiency • ASPA Gene Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 3 weeks Specimen Details:...

Genetic TestsMethylmalonic Aciduria Genetic Test (MUT Gene)

Test Name & Code: • Test Name: Methylmalonic Aciduria Genetic Test (MUT Gene) • Test Code: 2931 Related Diseases & Genes: • Methylmalonic aciduria (OMIM #: 251000) || Gene: MUT (OMIM #: 609058) Synonyms: • Methylmalonyl-CoA Mutase Gene Mutations • MCM Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks...

Genetic TestsIsovaleric Acidemia Genetic Test (IVD Gene)

Test Name & Code: • Test Name: Isovaleric Acidemia Genetic Test (IVD Gene) • Test Code: 2930 Related Diseases & Genes: • Isovaleric acidemia (OMIM #: 243500) || Gene: IVD (OMIM #: 607036) Synonyms: • IVD Mutations • Isovaleryl-CoA Dehydrogenase Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2-3 weeks Specimen...

Genetic TestsMaple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes)

Test Name & Code: • Test Name: Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes) • Test Code: 2929 Related Diseases & Genes: • “Maple syrup urine disease, type Ia” (OMIM #: 248600) || Gene: BCKDHA (OMIM #: 608348) • “Maple syrup urine disease, type Ib” (OMIM #: 248600) || Gene: BCKDHB (OMIM #: 248611)...

Genetic TestsFanconi-Bickel Syndrome (SLC2A2 Gene)

Test Name & Code: • Test Name: Fanconi-Bickel Syndrome (SLC2A2 Gene) • Test Code: 2782 Related Diseases & Genes: • Fanconi-Bickel syndrome (OMIM #: 227810) || Gene: SLC2A2 (OMIM #: 138160) Synonyms: • Glycogen Storage Disease XI • SLC2A2 Gene Mutations • Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 2 Test Details: Methodology: DNA Sequencing...

Genetic Tests5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)

Test Name & Code: • Test Name: 5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis) • Test Code: 2637 Related Diseases & Genes: • Pseudovaginal perineoscrotal hypospadias (OMIM #: 264600) || Gene: SRD5A2 (OMIM #: 607306) Synonyms: • 5 Alpha Reductase Deficiency • Steroid 5-alpha-reductase Test Details: • Methodology: DNA Sequencing • Performed: Everyday •...

Genetic TestsPropionicacidemia Genetic Test (PCCA, PCCB Genes)

Test Name & Code: • Test Name: Propionicacidemia Genetic Test (PCCA, PCCB Genes) • Test Code: 2236 Related Diseases & Genes: • Propionicacidemia (OMIM #: 606054) || Gene: PCCA (OMIM #: 232000) || Gene: PCCB (OMIM #: 232050) Synonyms: • “Propionyl-CoA Carboxylase, Alpha Subunit” • “Propionyl-CoA Carboxylase, Beta Subunit” Test Details: • Methodology: DNA Sequencing...

Genetic TestsHereditary Fructose Intolerance (ALDOB Gene)

Test Name & Code: • Test Name: Hereditary Fructose Intolerance (ALDOB Gene) • Test Code: 2227 Related Diseases & Genes: • Fructose intolerance (OMIM #: 229600) || Gene: ALDOB (OMIM #: 612724) Synonyms: • Aldolase B Mutations • ALDOB Mutations Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 2 weeks Specimen Details:...