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Macrocephaly
Clinical Genetic Test
Help
offered by
MGZ Medical Genetics Center
GTR Test Accession: Help GTR000521142.2
INHERITED DISEASECONNECTIVE TISSUE
Last updated in GTR: 2015-12-22
View version history
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Cowden syndrome
Genes (42): Help
ABCC6 (16p13.11); AKT1 (14q32.33); AKT3 (1q43-44); ASPA (17p13.2); BRWD3 (Xq21.1) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of the entire coding region: Next-Generation (NGS)/Massively parallel sequencing (MPS)
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
MGZ Medical Genetics Center
View lab's website
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
156
View other test codes
Lab contact: Help
Angela Abicht, MD, Lab Director
[email protected]
+49 8930908860
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.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
No
Recommended fields not provided:
How to Order, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 42
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help
Alamut: PolyPhen-2, SIFT, Align GVGD, MAPP, SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, Human Splicing Finder, MutationTaster

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
.
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Our diagnostic criteria requires: (i) at least 98% of the sequencing reads have a quality score (Q) above 30 (99,9% accurate), (ii) a median per base sequence quality score (Q) above 30 (99,9% accurate), (iii) at least 98% of the region of interest have over 30-fold per base coverage.
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
Molecular Genetics Sequencing
VUS:
Laboratory's policy on reporting novel variations Help
Decline to answer
Recommended fields not provided:
Test Confirmation, 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
Not provided
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.