NGS of 12 gene panel: ABCD1, AIMP1, BCAP31, DARS, DARS2, FAM126A, GJC2, HSPD1, POLR3A, POLR3B, SLC25A12, TUBB4A.

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Documentation:
Ref: LV2990 Categories: , , , , , , , Diseases: Adrenoleukodystrophy; Leukodystrophy, hypomyelinating; Hypomyelination, global cerebral; Deafness, dystonia, and cerebral hypomyelination (DDCH);Genes: POLR3B, ABCD1, TUBB4A, SLC25A12, DARS, DARS2, FAM126A, HSPD1, POLR3A, AIMP1, BCAP31, GJC2Delivery term: 42 days