Invitae Disorders of Female Sex Development Test
Use
The Invitae Disorders of Female Sex Development test analyzes the SRY gene associated with 46,XX disorders of sex development (DSD)/complete gonadal dysgenesis (CGD). This test can confirm a diagnosis and help guide clinical management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.
Special Instructions
This test determines the presence or absence of the SRY gene in a phenotypic male with a 46,XX karyotype. Genetic testing may confirm a diagnosis and aid in genetic counseling.
Limitations
The assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp, and exon-level deletions/duplications. Rarely, single-exon copy number events may not be analyzed due to sequence properties. Structural rearrangements and variants in complex sequence architecture may not be detected. Promoter, non-coding exons, and other non-coding regions are not guaranteed to be covered unless specified.
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)