Butyrylcholinesterase Deficiency (BCHE)
GTR Test Accession: Help GTR000327511.2
INHERITED DISEASEMETABOLIC DISEASE
Last updated in GTR: 2013-12-17
Last annual review date for the lab: 2023-12-11 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Deficiency of butyrylcholinesterase
Genes (1): Help
BCHE (3q26.1)
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis; ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
MVZ Dr. Eberhard & Partner Dortmund
View lab's website
View lab's test page
Test short name: Help
BCHE
Specimen Source: Help
Test Order Code: Help
Butyrylcholinesterase Deficiency, BCHE
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
EDTA-blood, DNA, other peripheral whole blood samples (not frozen). Other specimen after consultation.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Result interpretation
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Identified variants are documented in-house and are comprehensively evaluated using mutation databases and literature by scientific and medical directors.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Technical Information
Test Platform:
None/not applicable
Test Comments: Help
Biochemical testing available: Butyrylcholinesterase activity.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical sensitivity and specificity >99%.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
RfB, Referenzinstitut für Bioanalytik, Bonn, Germany

Description of PT method: Help
RfB, Referenzinstitut für Bioanalytik, Bonn, Germany: PT program performed annually.
VUS:
Software used to interpret novel variations Help
A collection of bioinformatic tools.

Laboratory's policy on reporting novel variations Help
Novel variations are evaluated and reported if suspected relevant.
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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