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SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test

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SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test

Short Name: SLC16A2 Gene AHDS NGS

Also known as: SLC16A2 gene mutation test, MCT8 gene analysis, Allan-Herndon-Dudley syndrome genetic test, SLC16A2 Next-Generation Sequencing, AHDS NGS test

SLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Confirmatory Sanger sequencing if a reportable variant is identified on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically issued within 3 to 4 weeks after the sample is received by the laboratory.. Free home collection in 300+ cities across India.

Genetic / NGSMale/FemaleInfants, Children, Adults🏠 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

This test is performed to identify pathogenic variants in the SLC16A2 gene in individuals with clinical features suggestive of Allan-Herndon-Dudley syndrome. It helps confirm the diagnosis, guide genetic counseling, and inform family members about recurrence risks and carrier status.

Test Code
3860
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically issued within 3 to 4 weeks after the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Confirmatory Sanger sequencing if a reportable variant is identified
Step 1

Sample Collection

No fasting is required. A Genetic Counseling session is recommended before the test to draw a pedigree chart of family members affected with SLC16A2-related disease.

Method: Peripheral venipuncture / FTA blood spot collection

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using an FTA card, one drop of blood will be applied and allowed to dry.

Step 3

Report Delivery

You may resume normal activities immediately. The laboratory will process the sample for NGS and release the report within 3 to 4 weeks.

Timeline: Reports are typically issued within 3 to 4 weeks after the sample is received by the laboratory.

Patient Instructions

1
Before the Test:No special preparation is required. Please provide clinical history, thyroid function report if available, and family pedigree information.
2
During the Test:The test requires a blood sample or FTA card blood spot. The collection procedure is brief and routine.
3
After the Test:There are no activity restrictions. Await the laboratory report and discuss results with your clinician or genetic counselor.

About This Test

Who Should Get This Test

This test is performed to identify pathogenic variants in the SLC16A2 gene in individuals with clinical features suggestive of Allan-Herndon-Dudley syndrome. It helps confirm the diagnosis, guide genetic counseling, and inform family members about recurrence risks and carrier status.

How to Prepare

  • No fasting is required for this test.
  • Blood should be collected in an EDTA vacutainer and stored at 2–8°C until dispatch.
  • If using an FTA card, apply one drop of blood and allow the card to air dry completely.
  • Label samples correctly with the patient's name and unique identifier.
  • Provide relevant clinical history, family history, and pedigree information to aid interpretation.

Doctor's Notes

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

"A clinician should integrate the genetic result with developmental, neurological and thyroid biochemical findings before confirming a diagnosis of Allan-Herndon-Dudley syndrome."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral venipuncture / FTA blood spot collection

Sample Stability

EDTA bloodUp to 72 hours
FTA card blood spotSeveral weeks to months
Extracted DNAStable long term
Sample Rejection Criteria:
  • Unlabeled or mislabeled sample
  • Insufficient DNA quantity after extraction
  • Improperly stored sample with visible hemolysis or clotting
  • FTA card incompletely dried or contaminated
  • Sample received without consent or clinical information

Understanding Your Results

All results should be interpreted by a qualified clinical geneticist in the context of the patient's clinical presentation, biochemical profile, and family history.
📊

No pathogenic variant detected

This reduces but does not completely exclude the diagnosis of AHDS. Other genetic or metabolic causes should be considered.

📊

Pathogenic or likely pathogenic variant detected

Molecular confirmation of the clinical diagnosis in an affected male. Genetic counseling and family segregation testing are recommended.

📊

Variant of uncertain significance detected

Insufficient evidence to classify the variant as disease-causing. Additional testing of affected and unaffected family members may help clarify its significance.

📊

Benign or likely benign variant detected

Considered not causative for AHDS. Clinical evaluation should continue if suspicion remains.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, pediatric neurologist, or your referring doctor before genetic testing, if the child has unexplained developmental delay, hypotonia, abnormal thyroid function, or a family history of X-linked intellectual disability, and after results are available to understand the implications.

Limitations

  • ⚠This NGS test is designed to detect single nucleotide variants and small insertions/deletions in the SLC16A2 gene.
  • ⚠Large gene deletions, duplications, complex rearrangements, and some deep intronic variants may not be detected by this targeted NGS assay.
  • ⚠Variant of uncertain significance may be reported when evidence is insufficient to classify it as pathogenic or benign.
  • ⚠A negative result does not exclude the possibility of AHDS if clinical suspicion remains high; additional testing may be required.

Risks & Considerations

  • ●Minor pain, bruising, or discomfort at the venipuncture site
  • ●Anxiety while waiting for genetic results
  • ●Possible psychological impact of a positive genetic result
  • ●Potential implications for biological family members

Interfering Factors

  • ●Poor DNA quality due to delayed transport or improper storage
  • ●Insufficient sample quantity for complete NGS analysis
  • ●Sample contamination during collection or handling
  • ●Maternal cell contamination in certain sample types
  • ●Variant located in deep intronic or regulatory regions not covered by this targeted test

Compare With Similar Tests

TestSLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test
ComparisonSLC16A2 Gene Allan-Herndon-Dudley Syndrome NGS Genetic Test

Frequently Asked Questions

What is Allan-Herndon-Dudley syndrome?
Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder caused by pathogenic variants in the SLC16A2 gene. It affects thyroid hormone transport into the brain and leads to severe intellectual disability and developmental delay.
What does the SLC16A2 gene do?
The SLC16A2 gene provides instructions for making monocarboxylate transporter 8 (MCT8), which helps transport thyroid hormone, particularly T3, into brain cells. This is essential for normal brain development and function.
How is the SLC16A2 NGS genetic test performed?
DNA is extracted from a blood sample, extracted DNA sample, or FTA card blood spot. The SLC16A2 gene is then analyzed using next-generation sequencing, and clinically significant variants are confirmed with Sanger sequencing if needed.
Do I need to fast for this test?
No, fasting is not required for the SLC16A2 gene Allan-Herndon-Dudley syndrome NGS genetic test.
Can females have Allan-Herndon-Dudley syndrome?
Females are usually carriers and may be mildly affected or asymptomatic. Severe symptoms are most commonly seen in males. Genetic counseling is recommended to understand carrier status and recurrence risk.
What does a positive test result mean?
A pathogenic or likely pathogenic variant in the SLC16A2 gene confirms the molecular diagnosis of Allan-Herndon-Dudley syndrome in an affected male. Results should be interpreted in the clinical context.
What is a variant of uncertain significance?
A variant of uncertain significance is a genetic change that cannot yet be classified as disease-causing or benign. Additional family testing and clinical correlation are often needed to clarify its importance.
How long does the test take?
The turnaround time is 3 to 4 weeks from the time the sample is received by the laboratory.
What sample types are accepted for this test?
We accept whole blood in an EDTA tube, extracted DNA, or one drop of blood applied on an FTA card.
Will I receive raw data files?
Yes, DNA Labs India shares the raw FASTQ and VCF files along with the conclusive clinical report for this SLC16A2 gene NGS genetic test.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across many cities in India.
Is this genetic test covered by insurance?
Genetic tests are generally not covered by insurance. You should check with your insurance provider and applicable government schemes before booking.
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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