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X-Inactivation Analysis

Alternate test name

X Chromosome Inactivation

Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
AR exon 1 trinucleotide repeat and methylation analysis
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood only; extracted DNA will not be accepted for this test.

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements

Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate)

Storage and transportation

Room Temperature

For details about specimen requirements, please refer to: Specimen Type and Requirements

DNA extracted at an external lab is not accepted for X-Chromosome Inactivation testing.

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

In females one of the two X-chromosomes becomes randomly inactivated early in embryogenesis to allow for dosage compensation of X-linked genes. In any one female somatic cell the inactive X may be either the paternal or maternal X chromosome. If the paternal X chromosome is inactivated more frequently than the maternal X chromosome or vice versa, the X inactivation pattern is skewed. If a woman carries a disease-causing mutation on just one of her X chromosomes, she normally would not show signs of the disease. However, skewed X inactivation may result in symptoms of an X-linked disease if the chromosome carrying the mutation is preferentially active. X inactivation is considered skewed if the ratio of the active to inactive X chromosome is less than 10 per cent or greater than 90 per cent.

The highly polymorphic androgen receptor (CAG)n repeat region, located on the X chromosome (Xq11-q12), is used to detect X inactivation. Methylation sensitive enzymes are used to cut the androgen receptor repeat region on the DNA strand. These enzymes digest DNA on the active X but do not cut sites on the inactive X. The quantitative PCR of androgen receptor repeats is compared with and without digestion to determine X inactivation ratio.

See related information sheet: X-Chromosome Inactivation

Disease condition

X Inactivation Analysis

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