U.S. flag

An official website of the United States government

GTR Home > Tests > Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel

Overview

Test name

Help

Hereditary Spastic Paraplegia Related Inborn Errors of Metabolism Panel (HSP Related Inborn Errors of Metabolism Panel)

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis, Risk Assessment

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Order URL Help: http://www.genedx.com/order-a-test/forms/

Specimen source

Oral Rinse
Peripheral (whole) blood

Methodology

Help
Molecular Genetics
DDeletion/duplication analysis
Comparative Genomic Hybridization
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

Not provided

Practice guidelines

  • ACMG ACT, 2023
    American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated lysophosphatidylcholines, X-Linked Adrenoleukodystrophy (X-ALD), 2023
  • ACMG Algorithm, 2023
    ACMG Algorithm, X-ALD: Elevated lysophosphatidylcholines C24:0, C26:0, 2023
  • AAP, 2021
    Leukodystrophies in Children: Diagnosis, Care, and Treatment, Pediatrics (2021) 148 (3): e2021053126.
  • EuroGentest, 2011
    Clinical utility gene card for: adrenoleukodystrophy.

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the 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.