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HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test

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HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test

Short Name: HERC2 ARID38 NGS

Also known as: HERC2 Gene Sequencing, Autosomal Recessive Intellectual Disability Type 38 Genetic Test, MRT38 NGS Panel

HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) of HERC2 gene, Sanger confirmation for reported variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are delivered within 3 to 4 weeks after sample receipt. Urgent reports may be available on request at an additional fee.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify pathogenic mutations in the HERC2 gene that cause autosomal recessive intellectual disability type 38. Testing aids in establishing a molecular diagnosis, confirming clinical suspicion, providing recurrence risk information for families, and guiding medical management for individuals with developmental delay and neurodevelopmental regression.

Test Code
4259
CPT Code
81406
ICD Code
F70-F79
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered within 3 to 4 weeks after sample receipt. Urgent reports may be available on request at an additional fee.
Fasting Required
No
Method
Next-Generation Sequencing (NGS) of HERC2 gene, Sanger confirmation for reported variants
Step 1

Sample Collection

No special preparation or fasting required. Adult patients may continue routine medications. A referral note or clinical summary from a neurologist or geneticist is recommended.

Method: Peripheral Venipuncture or FTA card blood spot

Step 2

Laboratory Analysis

Blood collection by venipuncture or FTA card spot. The process takes about 5 minutes. Patients should be seated comfortably.

Step 3

Report Delivery

No post-procedure precautions. The sample is sent to the laboratory in a temperature-controlled transport container.

Timeline: Reports are delivered within 3 to 4 weeks after sample receipt. Urgent reports may be available on request at an additional fee.

Patient Instructions

1
Before the Test:Prior to testing, a clinical consultation and pedigree analysis is performed. Referral notes and previous medical records are reviewed.
2
During the Test:NGS sequencing is performed in a NABL-accredited lab. The process involves DNA extraction, library preparation, sequencing, and bioinformatics analysis.
3
After the Test:Results are delivered online and via email/WhatsApp. A clinical interpretation and genetic counseling session is offered to discuss the outcome.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify pathogenic mutations in the HERC2 gene that cause autosomal recessive intellectual disability type 38. Testing aids in establishing a molecular diagnosis, confirming clinical suspicion, providing recurrence risk information for families, and guiding medical management for individuals with developmental delay and neurodevelopmental regression.

How to Prepare

  • Ensure EDTA vial is used for whole blood collection
  • Do not freeze whole blood; store at 2-8°C if transport is delayed
  • For FTA card, apply one drop of blood onto each printed circle
  • Label the sample with patient name, date of birth, and collection date

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic counseling and pedigree analysis are essential before ordering HERC2 gene testing to ensure appropriate interpretation and inheritance risk assessment."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood or 5 µg extracted DNA or FTA card spot
ContainerEDTA vacutainer or sterile DNA vial or FTA card
Collection MethodPeripheral Venipuncture or FTA card blood spot

Sample Stability

Whole blood (EDTA): 7 days at 2-8°C
Extracted DNA: 30 days at -20°C
FTA Card: 6 months at ambient temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Expired or damaged FTA card
  • Insufficient sample volume
  • Sample received without clinical history or consent form

Understanding Your Results

The clinical report is interpreted by clinical geneticists and molecular scientists. Results are correlated with the patient's phenotype, family history, and genetic counseling details.
Pathogenic/Likely Pathogenic Variant in HERC2: Confirms diagnosis of autosomal recessive intellectual disability type 38. Family segregation testing is recommended.
Variant of Uncertain Significance (VUS): Inconclusive; requires family studies and further clinical correlation.
No Pathogenic Variant: Does not exclude HERC2-related disorder due to possible non-coding or deep intronic variants; consider broader gene panel or chromosomal microarray.
Carrier State: One variant found; individual is an unaffected carrier if phenotype is not present. Reproductive risk counseling is needed.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the patient has unexplained intellectual disability, developmental regression, seizures, microcephaly, or features suggestive of a genetic syndrome. Genetic counseling should be obtained before and after testing to interpret results and discuss reproductive implications.

Limitations

  • ⚠NGS cannot detect large chromosomal rearrangements, repeat expansions, or epigenetic changes
  • ⚠Deep intronic or regulatory region variants may be missed
  • ⚠Variants of uncertain significance require additional testing of family members
  • ⚠Negative or inconclusive results do not rule out other genetic causes of intellectual disability

Risks & Considerations

  • ●No significant physical risks are associated with sample collection
  • ●Possible bruising or discomfort at venipuncture site
  • ●Psychological impact of genetic testing results
  • ●Risk of incidental findings

Interfering Factors

  • ●Low-quality DNA due to improper sample handling or prolonged storage
  • ●Potential false negatives when variants are in regions not covered by sequencing
  • ●Large deletions/duplications or mosaicism may not be detected by standard NGS
  • ●Interpretation challenge for variants of uncertain significance
  • ●Consanguinity or family history may influence variant interpretation

Compare With Similar Tests

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ComparisonHERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic Test

Frequently Asked Questions

What is HERC2 gene mental retardation autosomal recessive type 38?
Autosomal recessive type 38 intellectual disability (MRT38) is a rare genetic condition caused by mutations in the HERC2 gene. It is inherited when both parents carry one mutated copy and pass them to the child. It leads to moderate to severe intellectual disability, speech delay, seizures, microcephaly, and other neurological features.
What does the HERC2 NGS genetic test detect?
The NGS test sequences the entire coding region and splice-site boundaries of the HERC2 gene to detect pathogenic or likely pathogenic variants that cause autosomal recessive intellectual disability type 38.
What is the cost of HERC2 NGS genetic test in India?
The cost of the HERC2 NGS genetic test at DNA Labs India is Rs 20000.0. This includes genetic counseling, sample collection, NGS analysis, clinical report, and raw data files.
What sample type is required for this test?
Blood (EDTA), extracted DNA, or a one-drop blood spot on an FTA card can be used. The sample should be collected by a trained phlebotomist.
How long does it take to get results?
The turnaround time is 3 to 4 weeks from the date of sample receipt at the laboratory. Reports are shared online and via email/WhatsApp.
Is fasting required for the HERC2 genetic test?
No, fasting is not required for this test. Your child or you can eat and drink normally before sample collection.
What is the inheritance pattern of HERC2-associated intellectual disability?
It follows an autosomal recessive pattern. An affected individual must inherit two mutated copies of the HERC2 gene, one from each parent. Carriers with one mutated copy are typically unaffected.
Can this test be done for a child with intellectual disability?
Yes, the test is suitable for children and adults with unexplained intellectual disability. A pediatrician or neurologist may recommend genetic testing to identify the underlying cause.
Does DNA Labs India provide raw data files?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ and VCF) along with the conclusive clinical report. This allows further bioinformatic analysis if needed.
What is the role of genetic counseling before testing?
Genetic counseling involves drawing a pedigree chart and assessing family history to determine the likelihood of an inherited genetic condition, guide test selection, and explain the implications of possible results.
Are there any limitations of NGS HERC2 gene testing?
NGS may miss large deletions, deep intronic mutations, and repeat expansions. Variants of uncertain significance may require additional family testing. A negative result does not entirely rule out HERC2-related disorder.
How to book the HERC2 NGS genetic test at DNA Labs India?
You can book online at www.dnalabsindia.com. Free home sample collection is available across major cities in India. The discounted price is Rs 20000.0.
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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