X-inactivation Studies

Test Information

Turnaround Time

2 weeks

CPT Code(s)

81204

Cost

$350

Clinical Information

Determination of maternal and paternal X chromosome activation status is useful in the diagnostic analysis of nonrandom patterns. Skewed patterns of inactivation in female carriers of a number of X-linked recessive disorders and asymptomatic female carriers of some X-linked dominant diseases have been observed. By using the methylation-sensitive restriction enzyme HpaII and the polymerase chain reaction, the methylation status of both the maternal and paternal X chromosome is determined. Methylation of the HpaII restriction endonuclease site in the human androgen-receptor gene, HUMARA, correlates with X-inactivation. In approximately 10% of cases, the testing is uninformative due to the presence of the same allele size on both X chromosomes.

Indications

X-inactivation studies are useful in diagnosing some X-linked recessive disorders and determining carrier status of family members.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Other Molecular Testing, X-inactivation Studies
Meet Reggie Roper

Meet Reggie Roper

Reggie has been part of the GGC family for over 18 years. He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. He carried an initial diagnosis of cardiofaciocutaneous (CFC) syndrome; however, as genetic testing advanced, GGC made the diagnosis of Noonan-like syndrome with loose anagen hair by identifying a mutation in the SHOC2 gene. He is also an active participant in the Greenwood Community Theatre's Penguin Project. "GGC is...

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