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AHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test

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AHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test

Short Name: AHDC1 Gene MRD25 NGS Test

Also known as: AHDC1 gene mutation analysis, AHDC1 gene sequencing, MRD25 genetic test, AHDC1-associated intellectual disability NGS test, Next-generation sequencing for AHDC1 gene

AHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Whole Blood (EDTA) samples. Results in Samples are processed in batches; reports are typically available within 21 to 28 days from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect pathogenic and likely pathogenic variants in the AHDC1 gene that explain a patient's neurodevelopmental phenotype. Identifying a molecular diagnosis may end the diagnostic odyssey, clarify the inheritance pattern, inform management and surveillance, and provide the family with accurate recurrence risk information.

Test Code
4242
Price
₹20,000
Sample Type
Whole Blood (EDTA)
Result Time
Samples are processed in batches; reports are typically available within 21 to 28 days from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please bring previous prescriptions, medical records, genetic counselling summary or family history details if available. For children, a parent or guardian should accompany them.

Method: Peripheral venous blood collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small amount of blood (2-3 mL) from a vein in the arm using a sterile EDTA vacutainer. The procedure is quick and associated with minimal discomfort.

Step 3

Report Delivery

You can resume regular activities immediately. The sample will be transported to the laboratory using cold-chain logistics. Kindly keep the test requisition slip or order ID handy.

Timeline: Samples are processed in batches; reports are typically available within 21 to 28 days from sample receipt.

Patient Instructions

1
Before the Test:No fasting is required. The patient's clinical history and family pedigree will be reviewed during genetic counselling.
2
During the Test:A small blood sample is collected. No sedation or special preparation is needed.
3
After the Test:There is no restriction on daily activities. You will be informed when the report is available.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic and likely pathogenic variants in the AHDC1 gene that explain a patient's neurodevelopmental phenotype. Identifying a molecular diagnosis may end the diagnostic odyssey, clarify the inheritance pattern, inform management and surveillance, and provide the family with accurate recurrence risk information.

How to Prepare

  • EDTA whole blood is preferred.
  • Specimen should not be frozen.
  • Transport at 2-8°C if feasible; avoid extreme temperatures.
  • Complete requisition with patient name, date, clinical indication, and physician details.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"In clinical practice, children with intellectual disability are first evaluated by a paediatrician or neurologist. When the presentation is non-specific, a targeted single-gene test may be selected based on the clinical profile and family history. The result should always be correlated with the patient's phenotype by a clinical geneticist."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood (EDTA)
Sample Volume2-3 mL
ContainerEDTA vacutainer (purple top)
Collection MethodPeripheral venous blood collection

Sample Stability

Whole blood EDTA: ambient temperature 6-8 hours.
Whole blood EDTA: refrigerated at 2-8°C up to 72 hours.
Do not freeze whole blood.
Extracted DNA is stable for months at -20°C.
Sample Rejection Criteria:
  • Clotted or severely hemolyzed sample
  • Improper labeling or sample mismatch
  • Sample received after prolonged transport without cold chain
  • Frozen whole blood
  • Unverified patient identity

Understanding Your Results

The test result should be interpreted by a clinical geneticist in the context of the patient's clinical findings, family history, and additional investigations. Identified variants are classified according to ACMG-AMP guidelines and reported with clinical relevance.
Positive: A pathogenic or likely pathogenic variant in AHDC1 confirms a molecular diagnosis of mental retardation, autosomal dominant type 25. Genetic counselling and family segregation studies are advised.
Negative: No disease-causing variant was identified in the AHDC1 gene. The diagnosis remains clinical, and further genetic work-up may be considered.
Variant of uncertain significance (VUS): A VUS does not confirm or exclude the diagnosis. Additional testing of parents or affected relatives may help clarify the clinical significance.
Incidental findings: Any secondary finding will be reported after following applicable ethical and reporting guidelines.
⚠️ When to Consult a Doctor:

If your child or family member has unexplained neurodevelopmental delay, intellectual disability, speech-language problems, behavioural concerns, or a known family variant in AHDC1, please consult a clinical geneticist or a paediatric neurologist to discuss whether AHDC1 NGS genetic testing is appropriate.

Limitations

  • ⚠This single-gene NGS test detects variants only in the AHDC1 gene.
  • ⚠It is not designed to detect repeat expansion disorders, epigenetic changes, mitochondrial mutations, or large structural chromosomal abnormalities.
  • ⚠NGS has reduced sensitivity for low-level mosaicism, deep intronic variants, and complex rearrangements.
  • ⚠Large deletions/duplications may not be reliably detected by this NGS approach and may require orthogonal confirmation.
  • ⚠A negative result does not exclude all genetic causes of intellectual disability; broader testing may be considered.

Risks & Considerations

  • ●Minimal pain, bruising, or bleeding at the puncture site.
  • ●Rarely, vasovagal response or local infection after blood draw.

Interfering Factors

  • ●Allogeneic bone marrow or stem cell transplant can cause blood DNA to reflect the donor profile rather than the patient.
  • ●Recent heterologous blood transfusion may lead to mixed DNA results.
  • ●Severely degraded DNA or low DNA yield due to improper transport or storage.
  • ●PCR inhibition from haemolysis or contaminants.
  • ●Sample contamination during collection or handling.

Compare With Similar Tests

TestAHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic TestAHDC1 gene NGSChromosomal Microarray (CMA)Intellectual disability NGS panel
ComparisonAHDC1 Gene Mental retardation, autosomal dominant type 25 NGS Genetic Test

Frequently Asked Questions

What is AHDC1 gene mental retardation, autosomal dominant type 25?
It is a rare genetic neurodevelopmental disorder caused by pathogenic variants in the AHDC1 gene. It is inherited in an autosomal dominant pattern and is characterised by intellectual disability, delayed speech, behavioural issues, and sometimes subtle facial features. NGS testing helps confirm the diagnosis.
What does this NGS genetic test look for?
It analyses the coding exons and splice-site junctions of the AHDC1 gene. It detects single nucleotide variants and small insertions or deletions that can cause MRD25. It also reviews exon-level copy number changes, although these require confirmation.
Who should be tested?
Children or adults with unexplained intellectual disability, global developmental delay, speech delay, behavioural abnormalities, or a family history of MRD25 may be considered for this test. The decision should be made after clinical genetic evaluation.
Do I need to fast before giving the blood sample?
No. This test does not require fasting. You can take your normal meals and medicines. Only a small blood sample is needed.
What type of sample is required and is it painful?
A peripheral blood sample is taken from a vein in an EDTA vacutainer. The discomfort is minimal and similar to a routine blood test.
How long will my report take?
The report is usually ready within 21 to 28 days (3 to 4 weeks) after the sample reaches the laboratory. The exact time depends on sample quality and sequencing batch.
Can a negative AHDC1 test rule out all genetic reasons for intellectual disability?
No. A negative test only rules out detectable AHDC1 single-gene variants, not other genes or chromosomal aberrations. If clinically indicated, broader testing such as chromosomal microarray or an intellectual disability panel is advised.
What is the cost of the AHDC1 NGS genetic test?
The test costs Rs 20000 (INR 20000), which includes NGS analysis, pre-test genetic counselling, and a comprehensive clinical report. Free home collection is available in many cities.
Does insurance or government health scheme cover this test?
Coverage varies. PMJAY, CGHS, ECHS and ESIC may or may not cover it; pre-approval is required. Private insurance depends on the policy. We recommend checking with your insurance provider before booking.
What does 'variant of uncertain significance' (VUS) mean?
A VUS is a genetic change whose effect on health is not yet known. It does not confirm or exclude MRD25. Further testing of family members and segregation analysis may help reclassify the variant over time.
Is this test suitable for prenatal diagnosis?
This specific NGS test is intended for postnatal diagnostic testing on a blood sample. A separate prenatal genetic test, with appropriate counselling, invasive sampling, and laboratory validation, would be needed.
Do I need a doctor's prescription for this test?
We recommend a referral or prescription from a clinician. A genetic counselling session is included before testing to ensure the test is appropriate and to draw a family pedigree when required.
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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