FA is diagnosed by the detection of chromosomal aberrations in cells that have been cultured with a DNA interstrand cross-linking agent. There are at least 15 genes that are responsible for the known FA complementation groups. Mutations in the FANCB gene (Xp22.31) (OMIM# 300515), which are responsible for FA complementation group B (FA-B) (OMIM# 300514), account for 2% of FA cases. FA-B cases are the only X-linked form of FA and mainly affect males. Females can be heterozygote carriers at risk for having a child with X-linked FA. Carriers are found to have 100% skewing of X inactivation.
This testing is for sequence analysis of the FANCB gene only.
For patients with suspected FA-B, sequence analysis is recommended as the first step in mutation identification. For patients in whom mutations are not identified by full gene sequencing, deletion/duplication analysis is appropriate.
- Confirmation of a clinical diagnosis of Fanconi Anemia Type B in an individual in whom sequence analysis was negative.
- Carrier testing in adults with a family history of Fanconi Anemia Type B in whom sequence analysis was negative.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Preferred specimen type: Whole Blood
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml
Specimen Collection and Shipping: Refrigerate until time of shipment. Ship sample within 5 days of collection at room temperature with overnight delivery.
Specimen Requirements:OrageneTM Saliva Collection kit (available through EGL) used according to manufacturer instructions.
Specimen Collection and Shipping: Store sample at room temperature. Ship sample within 5 days of collection at room temperature with overnight delivery.
- Sequence analysis of the FANCB gene is available and is required before deletion/duplication analysis.
- Custom diagnostic mutation analysis (KM) is available to family members if mutations are identified by targeted mutation testing or sequencing analysis.
- Prenatal testing is available only for known familial mutations to individuals who are confirmed carriers of mutations. Please contact the laboratory genetic counselor to discuss appropriate testing prior to collecting a prenatal specimen.
- X-Linked Intellectual Disability panels are available for 30, 60, and 90 genes.