Duzen Laboratories Group Genetic Diseases Evaluation Center
Duzen Laboratories Group Genetic Diseases Evaluation Center
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Inborn Errors of Metabolism
genetic tests and test panels for detecting genetic variations or mutations associated with inherited metabolic disorders
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11-Beta-Hydroxylase Gene (CYP11B1) Mutations
5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis)
5 Alpha Reductase Deletion/Duplication Analysis
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A
ALPL Gene Deletion/Duplication Analysis
AMHR Genetic Analysis
AMH Genetic Analysis
AR Deletion/Duplication Analysis
AR (Androgen Receptor ) Analysis
AVPR2 Sequencing
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B
Biotinidase Deficiency (BTD Gene)
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C
Canavan Disease Genetic Analysis (ASPA Gene)
Carnitine Palmitoyltransferase II Deficiency
Citrullinemia Type I Genetic Testing
Congenital Adrenal Hyperplasia (CYP21A2 Gene)
Congenital Adrenal Hypoplasia Deletion Analysis
Congenital Adrenal Hypoplasia Mutation Analysis
Congenital Glycosylation defect Type 1A
CYP21A2 Deletion/Duplication Analysis
CYP27A1 Gene Deletion/Duplication Analysis
CYP27A1 Sequencing
Cystinosis CTNS Gene Testing
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F
Fabry Syndrome (GLA Gene Sequence Analysis)
Fanconi-Bickel Syndrome (SLC2A2 Gene)
Fatty Acid Oxidation Disorders Gene Panel
Fucosidosis FUCA1 Gen Analizi
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G
Galactosemia Genetic Analysis (GALT Gene)
GALT Deletion/Duplication Analysis
GAUCHER GBA Gene Sequencing
Glutaric Acidemia I
Glycogen Storage Diseases Gene Panel
Glycogen Storage Disease Ia G6PC Gene Testing
GM1-Gangliosidosis (GLB1 Gene)
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H
Hereditary Fructose Intolerance (ALDOB Gene)
HUNTER IDS Gene Sequencing
Hypophosphatasia ALPL Gene Sequencing
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I
Isovaleric Acidemia Genetic Test (IVD Gene)
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L
Lysosomal Storage Diseases Gene Panel
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M
Maple Syrup Urine Disease (BCKDHA, BCKDHB, DBT Genes)
Metachromatic Leukodystrophy (ARSA1 Gene)
Methylmalonic Aciduria Genetic Test (MUT Gene)
Mucopolysaccharidosis Type VI (ARSB Gene)
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N
Niemann-Pick Genetic Test (NPC1, NPC2, SMPD1 genes)
Noronal Ceroid Lipofuscinosis (NCL) Genetic Panel
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P
PAH Deletion/Duplication Analysis
Peroxisomal Disorders Gene Panel
Phenylketonuria Gene Sequence Analysis (PAH Gene)
POMPE Genetic Analysis
PROP1 Deletion/Duplication Analysis
PROP1 Genetic Analysis
Propionicacidemia Genetic Test (PCCA, PCCB Genes)
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R
RET Mutations
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S
SHOX Deletion
Smith-Lemli-Opitz Syndrome
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T
Tay-Sachs Disease Genetic Test (HEXA Gene)
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W
Whole Exome Sequencing (WES)
Wolman LIPA Gene Sequencing
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