Tutkimuspaneli

http://www.ncbi.nlm.nih.gov/gtr/tests/511460/

Condition

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16 conditions tested. Click Indication tab for more information.

• Very long chain acyl-CoA dehydrogenase deficiency (VLCAD)
• 3-Methylglutaconic aciduria type 2 (MGCA2)
• Acyl-CoA dehydrogenase family, member 9, deficiency of
• CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
• CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
• Carnitine acylcarnitine translocase deficiency (CACTD)
• Carnitine palmitoyltransferase I deficiency
• Carnitine palmitoyltransferase II deficiency, infantile
• Deficiency of butyryl-CoA dehydrogenase (ACADSD)
• Encephalopathy, acute, infection-induced, 4, susceptibility to (IIAE4)
• Glutaric aciduria, type 2 (MADD)
• Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD)
• Mitochondrial trifunctional protein deficiency (MTPD)
• Myoglobinuria, acute recurrent, autosomal recessive
• Renal carnitine transport defect (CDSP)
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Summary of what is tested

17 genes and variants. Click Methodology tab for more information.

Genes

• ACAD9 (3q21.3)
• ACADL (2q34)
• ACADM (1p31.1)
• ACADS (12q24.31)
• ACADVL (17p13.1)
• CPT1A (11q13.3)
• CPT1B (22q13.33)
• CPT2 (1p32.3)
• ETFA (15q24.2-24.3)
• ETFB (19q13.41)
• ETFDH (4q32.1)
• HADHA (2p23.3)
• HADHB (2p23.3)
• LPIN1 (2p25.1)
• SLC22A5 (5q31.1)
• SLC25A20 (3p21.31)
• TAZ (Xq28)