Classic view of this page
Kearns Sayre syndrome
Clinical Genetic Test
Help
offered by
MGZ Medical Genetics Center
GTR Test Accession: Help GTR000515734.1
INHERITED DISEASEMITOCHONDRIAL DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2014-09-09
View version history
Last annual review date for the lab: 2024-03-13 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (5): Help
Kearns-Sayre syndrome; Mitochondrial DNA Deletion Syndromes; Mitochondrial disease; ...
Chromosomal regions/ Mitochondria (1): Help
Mitochondrion
Genes (7): Help
MGME1 (20p11.23), MTRFR (12q24.31), POLG (15q26.1), POLG2 (17q23.3), RRM2B (8q22.3), ...
Methods (5): Help
Molecular Genetics - Deletion/duplication analysis: Long range PCR; Multiplex Ligation-dependent Probe Amplification (MLPA); PCR-RFLP with Southern hybridization; ...
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
Test short name: Help
KSS
Specimen Source: Help
  • Amniotic fluid
  • Buccal swab
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Dried blood spot (DBS) card
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Frozen tissue
  • Paraffin block
  • Peripheral (whole) blood
  • Product of conception (POC)
  • Urine
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
Lab contact: Help
Angela Abicht, MD, Lab Director
abicht@mgz-muenchen.de
+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.
How to Order: Help
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Identity Testing
Preimplantation Genetic Diagnosis (PGD)
Result interpretation
Uniparental Disomy (UPD) Testing
X-Chromosome Inactivation Studies
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, Test strategy
Conditions Help
Total conditions: 5
Condition/Phenotype Identifier
Test Targets
Chromosomal regions/Mitochondria Help
Total chromosomal regions/mitochondria: 1
Chromosomal region/Mitochondrion Associated condition
Genes Help
Total genes: 7
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 5
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Long range PCR
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Deletion/duplication analysis
PCR-RFLP with Southern hybridization
Mutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis
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:
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, Clinical utility, Target population, 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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sanger Sequencing: Sensitivity >98%; MLPA: Sensitivity >95%, specifity >95% NGS_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 … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

PT Provider: Help
European Molecular Genetics Quality Network, EMQN
VUS:
Software used to interpret novel variations Help
Alamut, MutationTaster
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
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.