GNAS – Methylation and Del/Dup analysis

Test code: D00397
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DNA test specific for GNAS. GNAS locus has a highly complex imprinted expression pattern. It gives rise to maternally-, paternally- and biallelically-expressed transcripts that are derived from four alternative promoters with distinct 5′ exons. Varients in GNAS can be associated with:

  • Albright hereditary osteodystrophy
  • pseudohypoparathyroidism type Ia and Ib
  • pseudopseudohypoparathyroidism
  • McCune–Albright syndrome
  • Myxoma

Mutations in this gene also result in progressive osseous heteroplasia, polyostotic fibrous dysplasia of bone, and some pituitary tumors. Mutations in the repeat region of the XL exon leads to a hyperactive form of XLas due to lowered interaction with ALEX. As XLas is expressed in platelets, the risk of bleeding is elevated.

Our GNAS specialists interpret Sanger test Endocrinology MLPA ME031: incl methylation analysis

Genes

GNAS

Lab method

Methylation and Del/Dup Analysis

Turnaround time

1 month

Location

Location AMC

Price  690,00

Disorder(s)

  • Albright hereditary osteodystrophy - AHO
  • Pseudohypoparathyroidism Ia (OMIM: 103580)
  • Pseudohypoparathyroidism Ib (OMIM: 603233)
  • Pseudopseudohypoparathyroidism (OMIM: 612463)