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PRDM12 Gene HSAN8 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRDM12 Gene HSAN8 NGS Genetic Test

Short Name: PRDM12 HSAN8 NGS Test

Also known as: PRDM12 Gene Hereditary Sensory and Autonomic Neuropathy Type 8 NGS Test, HSAN8 Genetic Test, PRDM12 Gene Mutation Analysis, HSAN8 Targeted Gene Panel

PRDM12 Gene HSAN8 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Your report will be available within 3 to 4 weeks after the sample is received. You will receive a secure download link via email, WhatsApp, and the DNA Labs India patient portal.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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

The purpose of this test is to identify disease-causing variants in the PRDM12 gene that are associated with hereditary sensory and autonomic neuropathy type 8 (HSAN8). This test can help confirm a clinical suspicion, assist in differential diagnosis, and inform recurrence risk counseling.

Test Code
4130
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Your report will be available within 3 to 4 weeks after the sample is received. You will receive a secure download link via email, WhatsApp, and the DNA Labs India patient portal.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Step 1

Sample Collection

No special preparation is required. Fasting is not needed. Please bring any available clinical notes, imaging, and family history information. The pretest genetic counseling session will include pedigree construction and a discussion of recurrence risks.

Method: Venipuncture or FTA blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample. If using an FTA card, applying one drop of blood onto the card is all that is needed. The procedure is quick and generally safe.

Step 3

Report Delivery

No rest period is needed after the collection. You may resume daily activities immediately. A minor bruise may develop at the venipuncture site, which generally resolves quickly.

Timeline: Your report will be available within 3 to 4 weeks after the sample is received. You will receive a secure download link via email, WhatsApp, and the DNA Labs India patient portal.

Patient Instructions

1
Before the Test:No fasting is required. Discuss your complete family history with the genetic counselor or referring physician before the test.
2
During the Test:A small blood sample will be taken. You may experience a brief pinch.
3
After the Test:You can go back to your normal routine immediately. A small bruise at the collection site may occur.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the PRDM12 gene that are associated with hereditary sensory and autonomic neuropathy type 8 (HSAN8). This test can help confirm a clinical suspicion, assist in differential diagnosis, and inform recurrence risk counseling.

How to Prepare

  • Blood sample: 2 mL collected in an EDTA vacutainer.
  • Extracted DNA: 5 µg high-quality DNA in a sterile tube may be accepted.
  • FTA card: One drop of blood placed on the designated FTA spot and air-dried.
  • Label each specimen container with patient name, date of birth, and collection date.

Doctor's Notes

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

"A molecular diagnosis in HSAN8 is not just a laboratory result; it alters the clinical roadmap. Early identification of PRDM12 variants allows caregivers to focus on injury prevention, physiotherapy and autonomic symptom management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 mL whole blood or 5 µg extracted DNA or one drop on FTA card
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodVenipuncture or FTA blood spot

Sample Stability

Blood: 24–72 hours at 2–8°C.
Extracted DNA: stable for several weeks at -20°C.
FTA card: stable at ambient temperature for several weeks.
Sample Rejection Criteria:
  • Hemolyzed, lipemic, or clotted blood sample.
  • Insufficient quantity of extracted DNA.
  • Sample with visible contamination or fungal growth.
  • Unlabelled specimen or missing requisition form.

Understanding Your Results

The clinical report should be interpreted by a qualified clinical geneticist. A positive result for a pathogenic PRDM12 variant is consistent with HSAN8 if clinical features align. A negative result does not exclude HSAN8 if another gene is responsible. Variants of uncertain significance require further testing and family segregation studies.
Positive: Pathogenic/likely pathogenic variant detected in PRDM12 in homozygous or compound heterozygous state; confirms molecular diagnosis.
Carrier: Heterozygous pathogenic variant detected; consistent with carrier status.
Negative: No pathogenic variant detected in PRDM12; HSAN8 due to PRDM12 is less likely, but other genes should be considered.
VUS: Variant of uncertain significance detected; further segregation analysis and functional studies may be recommended.
No variant: Test did not identify any reportable variant.
⚠️ When to Consult a Doctor:

If your child or a family member has signs of pain insensitivity, frequent unexplained injuries, autonomic symptoms, or if a close relative has been diagnosed with HSAN8, consult a clinical geneticist or neurologist for pretest counseling and confirmatory testing.

Limitations

  • ⚠Targeted test detects variants in PRDM12 only; variants in other HSAN-associated genes will not be identified.
  • ⚠Large copy number variants, deep intronic variants, and structural rearrangements may not be detected by standard NGS.
  • ⚠Variant detection may be limited in repetitive regions of the gene.
  • ⚠Some variants may be classified as variants of uncertain significance (VUS); additional family studies may be required.

Risks & Considerations

  • ●Bruising at venipuncture site
  • ●Lightheadedness during blood draw
  • ●Rare local infection
  • ●Emotional distress from uncertain results

Interfering Factors

  • ●Low-quality or degraded DNA may interfere with NGS results.
  • ●Contamination during sample collection or handling.
  • ●Presence of homologous sequences may reduce specificity.
  • ●Mosaicism with low variant allele fraction may fall below detection limits.

Frequently Asked Questions

What is the PRDM12 Gene HSAN8 NGS Genetic Test?
It is a next-generation sequencing test that analyses the PRDM12 gene to find mutations associated with hereditary sensory and autonomic neuropathy type 8 (HSAN8).
How much does the test cost at DNA Labs India?
The test costs INR 20,000, which includes the clinical report, raw data files, and pretest/post-test genetic counseling support.
What type of sample is required?
The test can be performed on whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before giving the sample?
No, fasting is not required for this DNA test.
How long will the PRDM12 gene HSAN8 test take?
Reports are usually issued within 3 to 4 weeks after the laboratory receives your sample.
Will I receive raw data files like FASTQ and VCF?
Yes. DNA Labs India shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test.
What is HSAN8?
HSAN8 is a rare autosomal recessive hereditary neuropathy caused by variants in the PRDM12 gene. It affects pain and temperature sensation and can cause autonomic dysfunction.
Who should go for this genetic test?
People with symptoms of reduced pain sensation, recurrent painless injuries, autonomic neuropathy, or with a family history of HSAN8 should consider this test after genetic counseling.
Is genetic counseling included?
Yes, a genetic counseling session is part of the service package to help you understand the implications of testing and to draw a family pedigree.
Can this test identify all genetic causes of hereditary sensory neuropathy?
No, this is a targeted test for the PRDM12 gene. If mutations in other genes are suspected, a broader neuropathy NGS panel or whole exome sequencing may be needed.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across listed cities in India.
How do I book the PRDM12 Gene HSAN8 NGS Genetic Test?
You can book online at the DNA Labs India website. Our team will contact you to confirm the appointment and sample collection details.
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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