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MFSD8-Related Neuronal Ceroid-Lipofuscinosis
Clinical Genetic Test
Help
offered by
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's test page
LinkOut
GTR Test Accession: Help GTR000592940.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2021-04-08
View version history
Last annual review date for the lab: 2022-11-28 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Pre-symptomatic; Mutation Confirmation
Conditions (1): Help
Neuronal ceroid lipofuscinosis 7
Genes (1): Help
MFSD8 (4q28.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Molecular Genetics Laboratory - Diagnostics Genetics
View lab's website
View lab's test page
Specimen Source: Help
  • Paraffin block
  • Peripheral (whole) blood
  • White blood cell prep
  • Saliva
  • Cell culture
  • Dried blood spot (DBS) card
  • Cystic hygroma fluid
  • Frozen tissue
  • Chorionic villi
  • Skin
  • Fibroblasts
  • Fetal blood
  • Product of conception (POC)
  • Urine
  • Buccal swab
  • Fresh tissue
  • Isolated DNA
  • Serum
  • Cord blood
  • Sputum
  • Amniocytes
Who can order: Help
  • Genetic Counselor
Lab contact: Help
Duty Scientist Molecular Genetics, LabPlus, , Staff
dgen@adhb.govt.nz
+64-9-3074949 ext 22014
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
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, How to Order, 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: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Bi-directional Sanger Sequence Analysis
Applied Biosystems 3500 capillary sequencing instrument
Clinical Information
Test purpose: Help
Diagnosis; Pre-symptomatic; Mutation Confirmation
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
No.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No.
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
Test Comments: Help
Testing within the Molecular Genetics lab is restricted to two specific mutations: c.103C>T (p.Arg35X) in exon 3 and and c.479C>T (p.Thr160Ile) in exon 6.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sequences (in the forward and reverse direction) of the coding regions and flanking upstream and downstream 20 bases of the adjacent introns were analysed using Variant Reporter Software. The report has used sequences that have a minimum trace score of 35 which corresponds to an average false base call … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, 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.