Lab Information Manual

Laboratory:

Genomics

Test Name:

FRAGILE X SYNDROME - FMR1 GENE - (B)

Test Code: MD

Clinical Information:

For carrier status prior consultation with the WRHA Genetics & Metabolism Program is required.
Prenatal diagnosis requires prior consultation with Molecular Diagnostic Lab.
For more information see:
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fragilex

Collection Devices:

Preferred Device:	2 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	6 - Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Microtainer(s) - EDTA, NO GEL (0.5 mL) to fill line Manufacturer: Becton Dickinson & Company Catalogue #: 363706

Specimen Required:

Blood: 8.0 mL

Pediatric Blood: 3.0 mL

Specimen must be kept at room temperature. Pediatric volume for infants only. Testing can also be performed on amniotic fluid (4mL required) or cultured amniocytes.

Referral:

Requisition:

_SH Molecular Diagnostic Lab Test Requisition (R250-10-09)

Reference Values:

An interpretive report will be sent.

Availability:

Within 8 Weeks

Expedited turnaround time, where medically indicated, available upon request.