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Genetic Labs

Houston, Texas

Genetic Laboratory
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Medical Genetics Test Details

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Biotinidase Deficiency tests available.

Late-Onset Biotin-Responsive Multiple Carboxylase | Multiple Carboxylase Deficiency | Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency | Late-Onset Multiple Carboxylase Deficiency

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis BTD Deletion/Duplication Analysis
Test Code: 3498
Enzyme Analysis Biotinidase Enzyme Analysis
Test Code: 4555
Sequence & Deletion/Duplication Analysis BTD Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3499
Sequence Analysis BTD Sequence Analysis
Test Code: 3495
BTD Sequence Analysis
Test Code: 3496

This test can only be performed if there is a previously identified familial mutation.
BTD Sequence Analysis
Test Code: 3497

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


Biotinidase Enzyme Analysis
Test Information: This test provides enzymatic analysis of Biotinidase for the confirmation of clinical diagnosis of Biotinidase Deficiency.

Biotinidase is deficient in Biotinidase Deficiency.
Test Details
Test Code: 4555
Special Notes: Results from this test are not useful for Carrier Testing. Please note, carriers may have Biotinidase levels in the normal range.

Biotinidase is very labile. Serum must be kept frozen at all times. Improper handling can result in a loss of enzyme activity.
Technical Information
Methodology: Colorimetric
Gene Name: BTD
Protein Name: Biotinidase
Test Type: Enzyme Analysis
References Values or Ranges: Serum: 4.2-13.0 nmol/min/ml
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Serum
Requirements: Draw blood in a No Additive (red-top) or Serum Gel (red/gray-top) tube(s) and separate as soon as possible. Send 1-2 cc of serum. Biotinidase is very labile. Freeze the specimen immediately after collection at -20C if possible. Ship to the laboratory as soon as possible.
Shipping Conditions: Ship frozen on dry ice in an insulated container by overnight courier.

Turn Around Time: 7 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 82261 x 1


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