آزمایشگاه ژندیا

امراض کودکان

pediatric

Achondroplasia

pediatric

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Alpha-1 Antitrypsin

pediatric

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Alstrom Syndrome

pediatric

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Angelman Syndrome

pediatric

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Cohen Syndrome

pediatric

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Becker & Duchenne Muscular Dystrophies

pediatric

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Charcot-Marie-Tooth disease

pediatric

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Cystic Fibrosis

pediatric

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6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene

pediatric

جزییات تست را ببینید

Argininemia via the ARG1 Gene

pediatric

جزییات تست را ببینید

Arginosuccinate Lyase Deficiency via the ASL Gene

pediatric

جزییات تست را ببینید

Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene

pediatric

جزییات تست را ببینید

Citrullinemia, Type I via ASS1 Gene

pediatric

جزییات تست را ببینید

Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene

pediatric

جزییات تست را ببینید

Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene

pediatric

جزییات تست را ببینید

Glycine N-Methyltransferase Deficiency via the GNMT Gene

pediatric

جزییات تست را ببینید

Gyrate Atrophy of Choroid and Retina via the OAT Gene

pediatric

جزییات تست را ببینید

Homocystinuria

pediatric

جزییات تست را ببینید

Homocystinuria via the CBS Gene

pediatric

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Homocystinuria, cblE Type, via the MTRR Gene

pediatric

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Hydroxyprolinemia via the PRODH2 Gene

pediatric

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Hyperammonemia

pediatric

جزییات تست را ببینید

Hyperammonemia via the NAGS Gene

pediatric

جزییات تست را ببینید

Hypermethioninemia

pediatric

جزییات تست را ببینید

Hyperphenylalaninemia via the DNAJC12 Gene

pediatric

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Maple Syrup Urine Disease Type IA via the BCKDHA

pediatric

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Maple Syrup Urine Disease Type IB via the BCKDHB

pediatric

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Maple Syrup Urine Disease Type II via the DBT Gene

pediatric

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Methionine Adenosyltransferase I/III Deficiency via the MAT1A Gene

pediatric

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Methylmalonic Aciduria and Homocystinuria

pediatric

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Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene

pediatric

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Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene

pediatric

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Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene

pediatric

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Ornithine Transcarbamylase Deficiency via the OTC

pediatric

جزییات تست را ببینید

Phenylalanine Hydroxylase Deficiency via the PAH Gene

pediatric

جزییات تست را ببینید

Pyruvate Carboxylase Deficiency via the PC Gene

pediatric

جزییات تست را ببینید

S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene

pediatric

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Tyrosinemia

pediatric

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Tyrosinemia, Type I via the FAH Gene

pediatric

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Tyrosinemia, Type II via the TAT Gene

pediatric

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Tyrosinemia Type III and Hawkinsinuria via the HPD Gene

pediatric

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Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only)

pediatric

جزییات تست را ببینید

Disorders of Folate Metabolism and Transport

pediatric

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Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene

pediatric

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Congenital Hypothyroidism and Thyroid Hormone Resistance

pediatric

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Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene

pediatric

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Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via the SLC52A2 Gene

pediatric

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Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene

pediatric

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Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene

pediatric

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Disorders of Fatty Acid Oxidation (FAOD)

pediatric

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Glutaric Acidemia Type II via the ETFA Gene

pediatric

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Glutaric Acidemia Type II via the ETFB Gene

pediatric

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Glutaric Acidemia Type II via the ETFDH Gene

pediatric

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Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene

pediatric

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Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency

pediatric

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Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS

pediatric

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Smith-Lemli-Opitz Syndrome via the DHCR7 Gene

pediatric

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Systemic Primary Carnitine Deficiency via the SLC22A5 Gene

pediatric

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Galactosemia

pediatric

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Hypoglycemia - Expanded

pediatric

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Severe Combined Immunodeficiency (SCID)

pediatric

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Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene

pediatric

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Lysosomal Storage Disorders

pediatric

جزییات تست را ببینید

β-Ketothiolase Deficiency via the ACAT1 Gene

pediatric

جزییات تست را ببینید

3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene

pediatric

جزییات تست را ببینید

3-Methylcrotonyl-CoA Carboxylase Deficiency

pediatric

جزییات تست را ببینید

3-Methylglutaconic Aciduria Type I via the AUH Gene

pediatric

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Biotinidase Deficiency via the BTD Gene

pediatric

جزییات تست را ببینید

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine

pediatric

جزییات تست را ببینید

Elevated Levels of C5-hydroxyacylcarnitine (C5-OH)

pediatric

جزییات تست را ببینید

Glutaric Acidemia Type I via the GCDH Gene

pediatric

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Glutaric Acidemia Type II

pediatric

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HCFC1-Related Disorders via the HCFC1 Gene

pediatric

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Holocarboxylase Synthetase Deficiency via the HLCS Gene

pediatric

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Isovaleric Acidemia via the IVD Gene

pediatric

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Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene

pediatric

جزییات تست را ببینید

Methylmalonic Acidemia

pediatric

جزییات تست را ببینید

Organic Aciduria

pediatric

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Comprehensive Congenital Heart Disease

pediatric

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Hereditary Hearing Loss and Deafness

pediatric

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Neonatal Respiratory Distress

pediatric

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Nonsyndromic Congenital Heart Disease

Pediatric

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Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis

Pediatric

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Peroxisomal Disorders

Pediatric

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کیفیت،همکاری،دلسوزیd

امراض کودکان

Achondroplasia

Alpha-1 Antitrypsin

Alstrom Syndrome

Angelman Syndrome

Cohen Syndrome

Becker & Duchenne Muscular Dystrophies

Charcot-Marie-Tooth disease

Cystic Fibrosis

6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency via the PTS Gene

Argininemia via the ARG1 Gene

Arginosuccinate Lyase Deficiency via the ASL Gene

Carbamoylphosphate Synthetase I Deficiency via the CPS1 Gene

Citrullinemia, Type I via ASS1 Gene

Dihydrolipoamide Dehydrogenase Deficiency via the DLD Gene

Dihydropteridine Reductase (DHPR) Deficiency via the QDPR Gene

Glycine N-Methyltransferase Deficiency via the GNMT Gene

Gyrate Atrophy of Choroid and Retina via the OAT Gene

Homocystinuria

Homocystinuria via the CBS Gene

Homocystinuria, cblE Type, via the MTRR Gene

Hydroxyprolinemia via the PRODH2 Gene

Hyperammonemia

Hyperammonemia via the NAGS Gene

Hypermethioninemia

Hyperphenylalaninemia via the DNAJC12 Gene

Maple Syrup Urine Disease Type IA via the BCKDHA

Maple Syrup Urine Disease Type IB via the BCKDHB

Maple Syrup Urine Disease Type II via the DBT Gene

Methionine Adenosyltransferase I/III Deficiency via the MAT1A Gene

Methylmalonic Aciduria and Homocystinuria

Methylmalonic Aciduria and Homocystinuria, cblC type, via the MMACHC Gene

Methylmalonic Aciduria and Homocystinuria, cblF type, via the LMBRD1 Gene

Methylmalonic Aciduria and Homocystinuria, cblJ Type, via the ABCD4 Gene

Ornithine Transcarbamylase Deficiency via the OTC

Phenylalanine Hydroxylase Deficiency via the PAH Gene

Pyruvate Carboxylase Deficiency via the PC Gene

S-Adenosylhomocysteine Hydrolase Deficiency via the AHCY Gene

Tyrosinemia

Tyrosinemia, Type I via the FAH Gene

Tyrosinemia, Type II via the TAT Gene

Tyrosinemia Type III and Hawkinsinuria via the HPD Gene

Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only)

Disorders of Folate Metabolism and Transport

Congenital Hypothyroidism (Thyroid Dysgenesis) via the NKX2-1/TTF1 Gene

Congenital Hypothyroidism and Thyroid Hormone Resistance

Brown-Vialetto-Van Laere Syndrome 1 and Fazio-Londe Disease (Progressive Bulbar Palsy With or Without Sensorineural Deafness) via the SLC52A3 Gene

Brown-Vialetto-Van Laere Syndrome 2 and Fazio-Londe Disease (Progressive Bulbar Palsy with or without Sensorineural Deafness) via the SLC52A2 Gene

Carnitine Palmitoyltransferase 1A Deficiency via the CPT1A Gene

Carnitine Palmitoyltransferase II Deficiency via the CPT2 Gene

Disorders of Fatty Acid Oxidation (FAOD)

Glutaric Acidemia Type II via the ETFA Gene

Glutaric Acidemia Type II via the ETFB Gene

Glutaric Acidemia Type II via the ETFDH Gene

Medium Chain Acyl-CoA Dehydrogenase Deficiency via the ACADM Gene

Mitochondrial Trifunctional Protein Deficiency and Long-Chain 3-Hydroxyacyl CoA Dehydrogenase Deficiency

Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS

Smith-Lemli-Opitz Syndrome via the DHCR7 Gene

Systemic Primary Carnitine Deficiency via the SLC22A5 Gene

Galactosemia

Hypoglycemia - Expanded

Severe Combined Immunodeficiency (SCID)

Glycogen Storage Disease Type II (Pompe Disease) via the GAA Gene

Lysosomal Storage Disorders

β-Ketothiolase Deficiency via the ACAT1 Gene

3-Hydroxy-3-MethylGlutaryl-CoA Lyase Deficiency via the HMGCL Gene

3-Methylcrotonyl-CoA Carboxylase Deficiency

3-Methylglutaconic Aciduria Type I via the AUH Gene

Biotinidase Deficiency via the BTD Gene

Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine

Elevated Levels of C5-hydroxyacylcarnitine (C5-OH)

Glutaric Acidemia Type I via the GCDH Gene

Glutaric Acidemia Type II

HCFC1-Related Disorders via the HCFC1 Gene

Holocarboxylase Synthetase Deficiency via the HLCS Gene

Isovaleric Acidemia via the IVD Gene

Malonyl-CoA Decarboxylase Deficiency via the MLYCD Gene

Methylmalonic Acidemia

Organic Aciduria