Invitae Biotinidase Deficiency Test
Use
The Invitae Biotinidase Deficiency Test analyzes the gene BTD, which is associated with biotinidase deficiency. This test is useful for the diagnosis of patients in whom biotinidase deficiency is suspected due to clinical symptoms, abnormal newborn screening results, or biochemical findings. Profound biotinidase deficiency, characterized by less than 10% of residual activity, if untreated, can lead to various symptoms like hypotonia, seizures, alopecia, and metabolic issues. Early intervention with pharmacologic doses of biotin is crucial to prevent irreversible neurologic damage. Partial deficiency, the most common subtype, typically involves 10%–30% activity and can detect asymptomatic individuals through newborn screenings. If untreated, this condition can lead to enzyme deficiency affecting biotin-dependent carboxylases.
Special Instructions
This test is useful for the diagnosis of patients where biotinidase deficiency is suspected due to clinical symptoms, abnormal newborn screening results, or biochemical findings. Ordering must consider the patient's clinical context and symptomatology. Ensure samples are collected and submitted as per instructions to avoid delays.
Limitations
The test uses NGS technology to analyze clinically important regions, but variants outside these regions, complex structural rearrangements, or within specific sequence complexities may not be detected. It may not be possible to fully resolve mosaicism, phasing, or mapping ambiguities. Additionally, in rare collection scenarios like recent blood transfusions, analyzed DNA may not represent the patient’s constitutional genome. Copy number detection might be limited in certain single-exon events due to sequence properties.
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)