Invitae Disorders of Sex Development Panel
Use
This test provides genetic testing for disorders of sex development (DSD), which are characterized by atypical gonadal or anatomical sex development, abnormalities in genitalia, sex organs, hormonal dysregulation, and/or infertility. Identifying a disease-causing variant through this test can confirm a diagnosis and guide treatment and management decisions. It also informs recurrence-risk assessment and genetic counseling.
Special Instructions
The panel includes sequencing and deletion/duplication analysis for 53 genes related to disorders of sex development. The polyalanine repeat expansions in HOXA13 related to hand-foot-genital syndrome are not analyzed by this assay.
Limitations
The test has limitations in detecting certain structural rearrangements, complex sequences, and specific variants like mosaicism or promoter changes outside target regions. Variants beyond coding exons, certain non-coding areas, and regions with complex genomic architecture may not be fully analyzed.
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)