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Batten Disease
Clinical Genetic Test
Help
offered by
Institute of Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000556502.1
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Registered in GTR: 2017-08-11
View version history
Last annual review date for the lab: 2024-09-30 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (2): Help
Neuronal ceroid lipofuscinosis 1; Neuronal ceroid lipofuscinosis 2
Enzymes (2): Help
Palmitoyl-protein thioesterase 1; Tripeptidyl-peptidase 1
Methods (1): Help
Biochemical Genetics - Enzyme assay: Fluorometry
Target population: Help
Universal
Clinical validity: Help
Not provided
Clinical utility: Help
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
View lab's test page
Test short name: Help
Batten Disease NCL1 and NCL2
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Bone marrow
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Isolated DNA
  • Peripheral (whole) blood
  • Plasma
  • Product of conception (POC)
  • Serum
  • Urine
  • View specimen requirements
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Physician
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
Contact Policy: Help
Post-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.
How to Order: Help
Kindly contact us for a prior collection of any specimen or you can visit our website.
Order URL
Test service: Help
Genetic counseling
Result interpretation
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
Test Order Code, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 2
Enzyme Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Enzyme assay
Fluorometry
PerkinElmer LS-55 Fluorescence Spectrometers
Clinical Information
Test purpose: Help
Diagnosis
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)

Target population: Help
Universal
View citations (1)
  • Sheth J, Mistri M, Sheth F, Shah R, Bavdekar A, Godbole K, Nanavaty N, Datar C, Kamate M, Oza N, Ankleshwaria C, Mehta S, Jackson M. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep. 2014;12:51-63. doi:10.1007/8904_2013_244. Epub 2013 Jul 13. PMID: 23852624.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, 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
The enzyme activity is greater than 98% sensitive
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Inter-Laboratory

PT Provider: Help
European Research Network for the Evaluation and Improvement of Screening Diagnosis and Treatment of Inherited Metabolic Disorders - External Quality Assessment Schemes, ERNDIM EQAS
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.