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Rett Syndrome

Rett Syndrome is a neurodevelopmental disorder with a range of phenotypes including: Classic Rett syndrome, Atypical Rett syndrome, and mild learning disabilities. It is characterized by a rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. It affects approximately 1/10,000 to 1/15,000 females and is the most common genetic cause of intellectual disability in females. Three genes are associated with Rett syndrome: MECP2, CDKL5 & FOXG1

Test Name: Rett Syndrome/Atypical Rett Syndrome
Test Code:
RETT
Test Description:
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Sample Requirements: Type
Whole blood: 3-5 mL in EDTA (purple top) or ACD (yellow top). DNA: 5 micrograms extracted DNA.

Processing
Do not spin. Keep at room temperature. Refrigerate samples which are not shipped immediately

Shipping
Room temperature via overnight shipping.
Samples Received:
Monday - Friday 8am - 5pm PST
Special Considerations:
Cost:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Lab Client Services (labclientservices@seattlechildrens.org) or call at 206-987-2617 with any billing questions