If clinically indicated GeneDx now offers deletion/duplication testing for most autosomal recessive metabolic disorders if our full sequencing of the relevant genes identifies only a single mutation. This test, called ExonArrayDx, employs DNA microarray-based array CGH to detect deletions or duplications of single genes but also of individual exons and introns within target genes. Intragenic mutations that are as small as 150-300bp can be identified with this microarray test.

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Fatty Acid Oxidation Disorders

• Carnitine Palmitoyltransferase II (CPT2) Deficiency (CPT2 gene)
• Glutaric Aciduria II (GAII) or Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) (ETFA, ETFB, and ETFDH genes)
• Isobutyryl-CoA Dehydrogenase Deficiency (ACAD8 gene) ^NEW
• Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) Deficiency (HADHA gene)  
• Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency (ACADM gene)
• Mitochondrial Trifunctional Protein (MTP) Deficiency (HADHA and HADHB genes)
• Primary/Systemic Carnitine Deficiency (SLC22A5 gene) ^NEW
• Short Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency (ACADS gene)
• Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency (ACADVL gene)

Organic Acidemias

• Beta-Ketothiolase Deficiency (ACAT1 gene) ^NEW
• Malonyl-CoA Decarboxylase Deficiency (MLYCD gene) ^NEW
• Methylmalonic Acidemia (MUT, MMAA and MMAB genes)
• Methylmalonic Aciduria and Homocystinuria, cblC Type (MMACHC gene)
• Propionic Acidemia (PCCA and PCCB genes)
• 3-Methylcrotonyl-CoA Carboxylase (MCC) Deficiency (MCCC1 and MCCC2 genes)^NEW
• Glutaric Aciduria Type I (GA1) (GCDH gene)^NEW
• Holocarboxylase Synthetase Deficiency (HLCS gene)
• HMG-CoA Lyase Deficiency (HMGCL gene)
• Isovaleric Acidemia (IVD gene)
• Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency (ACADSB gene) ^NEW

Aminoacidopathies

• 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency (PTS gene) ^NEW
• GTP Cyclohydrolase I Deficiency (GCH1 gene) ^NEW
• Homocystinuria due to Cystathionine ß-Synthase Deficiency (CBS gene) ^NEW
• Phenylketonuria (PAH gene)
• Tyrosinemia Type I (FAH gene) ^NEW

Lipid Storage Disorders

• Fabry Disease (GLA gene)
• Niemann-Pick Disease, Type C (NPC1 and NPC2 genes)
• Niemann-Pick Disease, Type A and Type B (SMPD1 gene)
• Pompe Disease (Glycogen Storage Disease II) (GAA gene)

Other Disorders

• Biotinidase Deficiency (BTD gene)
• Classic Citrullinemia (ASS1 gene) ^NEW
• Ornithine Transcarbamylase (OTC) Deficiency (OTC gene)
• Smith-Lemli-Opitz (SLO) Syndrome (DHCR7 gene)