Familial Targeted Sequencing, Fetal
Use
This test is used for fetal testing of a previously identified familial sequence variant by sequencing the gene of interest. It requires a copy of the family member's test result documenting the familial gene variant. The test aims to identify if the fetus carries the familial variant or other pathogenic or likely pathogenic variants related to the condition in the gene of interest.
Special Instructions
Consultation with a genetic counselor is advised to determine if the variant of interest is detectable with this assay and if there are gene-specific technical considerations. Testing will not proceed if the requested variant or gene is not covered.
Limitations
The test does not cover all genes/variants and only evaluates the specified familial variant(s) of interest. It does not identify regulatory region variants, deep intronic variants, large deletions/duplications, low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, aneuploidies, or repeat expansions. Technical limitations may occur due to the presence of pseudogenes, repetitive, or homologous regions. Noncoding transcripts are not analyzed.
Methodology
NGS
Biomarkers
Result Turnaround Time
10-14 days
Related Documents
For more information, please review the documents below
Specimen
Other
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
Submit fetal specimen and maternal whole blood specimen. Contact ARUP's genetic counselors for specimen requirements prior to sending samples.
Causes for Rejection
Inappropriate sample submission
Other tests from different labs that may be relevant