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DNA Labs India

SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test

Short Name: SLC16A2 NGS

Also known as: SLC16A2 Mutation Analysis, MCT8 Gene Sequencing, Allan-Herndon-Dudley Syndrome Genetic Test, SLC16A2 Next-Generation Sequencing

SLC16A2 Gene Pelizaeus-Merzbacher disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Molecular Genetic Test (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the SLC16A2 (MCT8) gene associated with Allan-Herndon-Dudley syndrome and to support the clinical diagnosis of X-linked myelination disorders with phenotypic overlap with Pelizaeus-Merzbacher disease.

Test Code
4448
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. Please carry the clinical notes, family history, and any prior genetic test results. A genetic counselling session is required before sample collection to draw a pedigree.

Method: Venipuncture or fingerstick

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist. For FTA card, a few drops of blood will be collected. There is no significant discomfort.

Step 3

Report Delivery

You may resume normal activities. The sample will be transported to the lab for processing.

Timeline: Reports are issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Genetic counselling session is mandatory before sample collection.
2
During the Test:A blood sample is collected, or an FTA card blood spot is prepared. The procedure is quick and safe.
3
After the Test:You will receive an online link to download the report once ready. RNA raw data (FASTQ, VCF) will be available upon request.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SLC16A2 (MCT8) gene associated with Allan-Herndon-Dudley syndrome and to support the clinical diagnosis of X-linked myelination disorders with phenotypic overlap with Pelizaeus-Merzbacher disease.

How to Prepare

  • Kindly ensure the patient's name and demographic details are correctly written on the sample container.
  • If providing extracted DNA, the concentration and purity should meet the lab's requirements (260/280 ratio 1.8-2.0).
  • For FTA card, allow the blood spot to air dry completely before packaging.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Given the X-linked inheritance pattern of SLC16A2-related disorders, genetic counselling and pedigree analysis are essential to assess recurrence risks and guide family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card / DNA in sterile vial
Collection MethodVenipuncture or fingerstick

Sample Stability

2-3 days
7 days
1 year or more
Sample Rejection Criteria:
  • Hemolysed, clotted, or inappropriately stored blood samples
  • Insufficient sample volume
  • Mislabeled or unlabeled samples
  • Samples without informed consent or clinical details

Understanding Your Results

This genetic test identifies pathogenic variants in the SLC16A2 gene that are linked to Allan-Herndon-Dudley syndrome. The interpretation should be correlated with clinical and radiological findings.
Positive for pathogenic variant: Confirms the genetic diagnosis, supports clinical management, and enables family screening.
Variant of uncertain significance (VUS): Additional familial studies such as segregation analysis may be recommended.
Negative result: No pathogenic variant detected in the testing range; other genetic causes of the phenotype should be considered.
Incidental findings: Any additional clinically significant variants will be reported separately.
⚠️ When to Consult a Doctor:

If the test result shows a pathogenic mutation, we advise you to consult a clinical geneticist or neurologist for personalized management, surveillance, and genetic counselling of family members.

Limitations

  • ⚠This test does not detect large structural rearrangements or repeat expansions outside the captured target.
  • ⚠Variants of uncertain significance may require further familial segregation analysis.
  • ⚠A negative result does not exclude SLC16A2-related disease if pathogenic variants are deep intronic or regulatory.

Risks & Considerations

  • ●Minimal risks associated with phlebotomy (e.g., bruising, light-headedness)
  • ●Psychological impact of genetic results
  • ●Possible incidental findings

Interfering Factors

  • ●Maternal cell contamination
  • ●Suboptimal DNA quality
  • ●Incomplete clinical/family history
  • ●Presence of pseudogenes or copy-number variants not detected by NGS

Frequently Asked Questions

What is the cost of the SLC16A2 gene Pelizaeus-Merzbacher disease NGS genetic test?
The cost is Rs 20,000. This includes home sample collection, NGS testing, and a comprehensive report. Raw data files are also provided.
What is the SLC16A2 gene?
The SLC16A2 gene provides instructions for making the MCT8 protein, which transports thyroid hormones into cells. Pathogenic variants in this gene cause Allan-Herndon-Dudley syndrome.
Is this test only for Pelizaeus-Merzbacher disease?
The test is named around PMD for historical clinical reasons, but SLC16A2 is not the usual gene for PMD. It is used mainly to evaluate SLC16A2-related disorders such as Allan-Herndon-Dudley syndrome, which shares some symptoms with PMD.
When will I get the reports?
The reports are typically available in 3 to 4 weeks after the sample is received at the lab.
What sample is needed for this test?
You may provide blood (2-3 mL in an EDTA tube), extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the test?
No fasting is required. You can take your regular meals and medications.
Will DNA Labs India provide raw data?
Yes, DNA Labs India is transparent and provides Raw Data, FASTQ, and VCF files along with the clinical test report for this test.
Can females be tested with this NGS test?
Yes, the test can be done for females to check carrier status. However, because the disorder is X-linked, severe symptoms typically occur in males.
Is genetic counseling available?
Yes, pre- and post-test genetic counseling sessions are available and recommended to understand the results and inheritance pattern.
Which cities are covered for home sample collection?
Home sample collection is available across India, including major cities like Delhi, Mumbai, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and many others. You can check at the time of booking.
Does this test detect all types of mutations?
This NGS test detects single nucleotide variants and small insertions/deletions in coding regions. It does not detect large deletions, repeat expansions, or regulatory mutations.
What is the purpose of drawing a pedigree chart?
A pedigree chart helps the geneticist understand the inheritance pattern of the condition in your family and is important for interpreting the significance of a detected variant.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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