Invitae NF1-related Conditions Test
Use
This test analyzes the NF1 gene to identify mutations associated with neurofibromatosis type 1, NFNS, and Watson syndrome. Genetic testing can confirm diagnoses, guide treatment, and inform testing of at-risk relatives. It is useful in diagnosing neurocutaneous disorders that increase the risk of tumors, including central nervous system neoplasms and malignancies.
Special Instructions
The NF1 gene test is appropriate for individuals with a personal or family history suggestive of NF1-related conditions. The genetic analysis focuses on germline mutations and is not suitable for somatic mutations in tumor tissue. Contact Invitae's client services for additional information.
Limitations
The test covers coding exons, select non-coding variants, and adjacent intronic regions. Variants outside these regions or complex genomic structures may not be detected. The test may not fully resolve mosaicism or phasing and is not guaranteed to identify sequence changes in non-coding regions. In rare cases, external factors like bone marrow transplants could affect results.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
Purple-top EDTA tube (K2EDTA or K3EDTA)