Invitae Alkaptonuria Test
Use
The Invitae Alkaptonuria test analyzes the homogentisate 1,2-dioxygenase (HGD) gene which is associated with alkaptonuria (AKU). Genetic testing of this gene may confirm a diagnosis and help guide treatment and management decisions. Identification of disease-causing variants can also aid in determining carrier status and diagnosis of at-risk relatives. Genetic testing may assist in diagnosing a suspected case of alkaptonuria based on clinical presentation and can facilitate assessment for this rare metabolic disorder.
Special Instructions
The test is primarily focused on the HGD gene and may be constructed or modified by removing genes. This test requires adherence to specified specimen protocols, and a collection kit can be requested. Specimen types accepted include whole blood, saliva, and buccal swab.
Limitations
The test does not cover sequence changes in promoter, non-coding exons, and other non-coding regions unless explicitly guaranteed. Structural rearrangements like inversions or translocations may not be detected. Sensitivity may be marginally reduced for insertions or deletions larger than 15bp but smaller than a full exon. Single-exon events may not be analyzed in rare situations. Genetic variants, such as mosaicism and mapping ambiguities, might not be fully resolved. This test analyzes extracted genomic DNA, but recent transfusions or transplants may 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)