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Pantothenate Kinase-Associated Neurodegeneration
Research Genetic test
Help
offered by
Human Genetics Research Lab
GTR Test Accession: Help GTR000556333.4
METABOLIC DISEASEINHERITED DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2021-08-17
View version history
Last annual review date for the lab: 2023-04-29 Past due LinkOut
At a Glance
Conditions (1): Help
Classic pantothenate kinase-associated neurodegeneration
Genes (3): Help
MIR103A2 (20p13); MIR103B2 (20p13); PANK2 (20p13)
Study description: Help
Sanger sequencing/TaqMan Genotyping/Massarray Primer Extension/Allele Specific PCR based methods development …
Recruitment status: Help
Currently open
Eligibility criteria: Help
Clinically evaluated participants/family members suspected with PKAN
Methods (4): Help
Molecular Genetics - Sequence analysis of select exons: SNP Detection; ...
Study Description
Name: Help
PKAN Variations Test
Study short name: Help
PKAN(Tests)
Test purpose: Help
For the laboratory to generate data in order to make technical improvements to a test
Description: Help
Sanger sequencing/TaqMan Genotyping/Massarray Primer Extension/Allele Specific PCR based methods development to detect PANK2 gene variations.
View citations (1)
  • PMC5498598
Study aims and hypotheses: Help
The objective of the study is to identify the individuals with the disease by screening the population with gene variants. The main objective is to develop assays for these identified variations and other variants of PANK2 gene, for screening in the population.
Study type: Help
Observational study
Offered by: Help
Human Genetics Research Lab
Person responsible for the study: Help
swarkar sharma, Lab Director
Study contact: Help
swarkar sharma, Lab Director
Participation
Recruitment status: Help
Currently open
Eligibility criteria: Help
Clinically evaluated participants/family members suspected with PKAN
Recruiting sites: Help
Shri Mata Vaishno Devi University, Katra
Consent form: Help
Not provided
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 3
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 4
Method Category Help
Test method Help
Instrument
Sequence analysis of select exons
SNP Detection
Thermofisher SeqStudio with Smartstart
Targeted variant analysis
Allele-specific primer extension (ASPE)
Taqman SNP genotyping/Gel detection method
Targeted variant analysis
SNP Detection
Mx3005p Agilent real time PCR
Targeted variant analysis
Tandem mass spectrometry (MS/MS)
MassARRAY System by Agena Bioscience
Technical Information
Test Procedure: Help
participants can learn about the test results.
Test Platform:
Taqman SNP genotyping/Gel detection method
Test Confirmation: Help
participants can learn about the test results.
Test Comments: Help
no cost to participate
Additional Information

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