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Cherry red spot and Neuroregression panel
Clinical Genetic Test
Help
offered by
Institute of Human Genetics
View lab's test page
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GTR Test Accession: Help GTR000556506.1
INHERITED DISEASEMETABOLIC DISEASEOPHTHALMOLOGY ... 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 (7): Help
Gaucher disease; Mucopolysaccharidosis, MPS-IV-B; Niemann-Pick disease, type A more...
Enzymes (5): Help
Beta-galactosidase; Beta-glucocerebrosidase; Beta-hexosaminidase subunit alpha; Beta-hexosaminidase subunit beta; Sphingomyelin phosphodiesterase
Proteins (1): Help
N-Neuraminidase
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
Cherry red spot and Neuroregression panel
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: 7
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 5
Enzyme Associated Condition
Proteins Help
Total proteins: 1
Protein 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)
  • Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center. Sheth J, et al. Indian Pediatr. 2015;52(12):1029-33. doi:10.1007/s13312-015-0768-x. PMID: 26713986.
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: Not Applicable
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.