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Spinal Muscular Atrophy (SMA)
Clinical Genetic Test
Help
offered by
Genetiks Genetic Diagnosis Center
View lab's test page
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GTR Test Accession: Help GTR000500022.2
INHERITED DISEASEMUSCULOSKELETALNERVOUS SYSTEM ... View more
Last updated in GTR: 2021-07-09
View version history
Last annual review date for the lab: 2023-09-05 Past due LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-implantation genetic diagnosis; ...
Conditions (1): Help
Spinal muscular atrophy
Genes (1): Help
SMN1 (5q13.2)
Methods (1): Help
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
Target population: Help
Carrier Status, Prenatal and Postnatal screaning and diagnosis
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Genetiks Genetic Diagnosis Center
View lab's website
View lab's test page
Test short name: Help
SMA
Manufacturer's name: Help
MRC Holland
Specimen Source: Help
  • Amniocytes
  • Amniotic fluid
  • Cell culture
  • Chorionic villi
  • Cord blood
  • Fetal blood
  • Fibroblasts
  • Fresh tissue
  • Peripheral (whole) blood
  • Skin
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • In-State Patients
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Out-of-State Patients
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Test Order Code: Help
3300595
Lab contact: Help
Hakan Berkil, MD, Medical Director
[email protected]
+902122757020
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 additional service: Help
Custom Prenatal Testing
    Comment: Please contact
    OrderCode: 3300595-P
Test development: Help
Manufactured (research use only; not FDA-reviewed)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Yes
Post-test genetic counseling required: Help
Yes
Recommended fields not provided:
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
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Thermo Applied Biosystem 3500XL DNA Sequencing System
Other
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-implantation genetic diagnosis; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
Carrier Status, Prenatal and Postnatal screaning and diagnosis
Recommended fields not provided:
Clinical validity, Clinical utility, 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
Test Comments: Help
SMN1 dosage analysis (copy number) for carrier testing Targeted mutation analysis for deletion of SMN1 exon 7-8
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Wet lab work performed in-house
Analytical Validity: Help
%95-98
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: 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.