Invitae Hypopigmentation Panel
Use
The Invitae Hypopigmentation Panel analyzes genes associated with hypopigmentation, characterized by decreased pigmentation of skin, hair, and/or eyes. This panel includes genes selected based on available evidence, allowing for a comprehensive evaluation of inherited hypopigmentation. Genetic heterogeneity in these conditions means phenotype alone is insufficient for diagnosis. This broad panel helps confirm diagnoses, guide treatment decisions, and inform genetic counseling and risk assessment. It is suitable for conditions like oculocutaneous albinism, Hermansky-Pudlak syndrome, and Griscelli syndrome.
Special Instructions
Specimens can be ordered with a specimen collection kit. The full-gene sequencing and deletion/duplication analysis use NGS technology, covering clinically relevant regions of each gene. Limitations are reported in the test results. Consult the website for detailed coverage information.
Limitations
The assay achieves >99% sensitivity and specificity for certain variant types. Some larger insertions/deletions and single-exon events may not be analyzed due to sequence properties. Structural rearrangements or complex sequences may not be detected. Sequencing changes in non-coding regions are generally excluded unless specified. DNA from certain conditions may not represent the patient's constitutional genome.
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)