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HMBS
Clinical Genetic Test
Help
offered by
Department of Clinical Genetics
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GTR Test Accession: Help GTR000322370.3
INHERITED DISEASECONNECTIVE TISSUEDIGESTIVE SYSTEM ... View more
Last updated in GTR: 2015-09-29
View version history
Last annual review date for the lab: 2023-01-27 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Drug Response; Mutation Confirmation; ...
Conditions (1): Help
Acute intermittent porphyria
Genes (1): Help
HMBS (11q23.3)
Methods (3): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Target population: Help
Any
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis; Guidance for management; Guidance for selecting a drug therapy and/or dose; ...
Ordering Information
Offered by: Help
Department of Clinical Genetics
View lab's website
View lab's test page
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Fibroblasts
  • Isolated DNA
  • Peripheral (whole) blood
  • White blood cell prep
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
Test Order Code: Help
AIP, Acute Intermittent Porphyria
Lab contact: Help
Klaus Brusgaard, PhD, MSc, Lab Director
Klaus.brusgaard@rsyd.dk
+45 65412874
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test additional service: Help
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test strategy
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: 3
Method Category Help
Test method Help
Instrument
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of select exons
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3730 capillary sequencing instrument
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina HiSeq™2000 system
Clinical Information
Test purpose: Help
Diagnosis; Drug Response; Mutation Confirmation; Pre-symptomatic; Screening
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Guidance for management
View citations (1)

Guidance for selecting a drug therapy and/or dose
View citations (1)

Predictive risk information for patient and/or family members
View citations (1)

Target population: Help
Any
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Yes.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Yes.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Comments: Help
No deletions or duplications involving PBGD as causative of Acute Intermittent Porphyria have been reported. (Note: By definition, deletion/duplication analysis identifies rearrangements that are not identifiable by sequence analysis of genomic DNA.)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Specificity 99,99, sensisivity 99,99.
Assay limitations: Help
Only exons and the exon - intron boundaries are covered. We do not perform analysis of deep intron variants.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
European Molecular Genetics Quality Network, EMQN

Description of PT method: Help
The lab is accredited according to ISO 15189 in accordance with the Danish Quality Model under DANAK (The Danish Accreditation body) in accordance with the European co-operation for Accreditation (EA), the International Accreditation Forum (IAF) and The International Laboratory Accreditation Cooperation (ILAC) The lab is participating in quality accesment scheems … View more
VUS:
Software used to interpret novel variations Help
PolyPhen, SIFT, AGVGD, Mutationtaster, Mutationaccessor, SpliceSiteFinder, GeneSplicer,
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.