Biotinidase deficiency : BTD Sequencing

Test Information

BTD sequencing is a molecular test used to identify variants in the gene associated with Biotinidase deficiency.

Turnaround Time

3 weeks

CPT Code(s)

81404

Cost

$1,000

Genes

Clinical Information

Biotinidase deficiency is an inborn error of metabolism caused by the deficiency of the enzyme biotinidase. Infants with biotinidase deficiency appear normal at birth. However, if untreated, affected infants can develop symptoms including hypotonia, ataxia, seizures, developmental delay, vision and hearing loss and cutaneous problems (eg. alopecia, dermatitis, eczema). Those diagnosed at birth should remain asymptomatic if treatment is initiated early and maintained.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Methodology

Sanger Sequencing

Detection

Sequencing of BTD will detect a mutation in 95% of individuals with biotinidase deficiency.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Newborn Screening Follow-Up, Sanger Sequencing
Meet Ella

Meet Ella

We will remember February 26th for the rest of our lives. On that day, we received the call from the Greenwood Genetic Center that they had discovered our daughter, Ella Marie, has Kleefstra syndrome. Very early on, my wife, Kelly, observed Ella being delayed in some of her milestones. Kelly monitored Ella’s progression and sought out testing in an effort to get Ella some assistance. Along the way, we were sent to GGC and met with Dr. Roger Stevenson ...

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