Congenital adrenal hypoplasia

OMIM:  # 300200

Gene

Techniques

NR0B1 (DAX1)

Sequence analysis of the entire coding region (exons 1 and 2), including intron/exon junctions:

Procedure

Sequence analysis of the NR0B1 gene (DAX1).

Detectie ratio:

~33% % (8/24)

Gene

Gene product

Locus

Inheritance

OMIM nummer

Reference Sequence

NR0B1

DAX1

Xp21.2

X-linked recessive

300473

NM_000475.4; NT_011757.12

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Laboratory turnaround times