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PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic Test

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PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 NGS Genetic Test

Short Name: PLEKHG5 SMA Type 4 NGS

Also known as: PLEKHG5 Gene Mutation Analysis, Distal SMA Type 4 Genetic Test, Autosomal Recessive SMA Type 4 NGS Panel

PLEKHG5 Gene Spinal muscular atrophy distal, autosomal recessive type 4 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 delivered within 3 to 4 weeks after the sample is received.. Free home collection in 300+ cities across India.

NGS Genetic TestAdult🏠 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 NGS genetic test is to identify sequence variants in the PLEKHG5 gene that are associated with distal spinal muscular atrophy, autosomal recessive type 4. This confirms the diagnosis, helps clarify the genetic cause, and enables risk assessment for family members.

Test Code
4542
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 the sample is received.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A genetic counselling session is required to draw a pedigree chart and understand the family history. No dietary or fasting restrictions are necessary. Please carry any prior neurophysiology reports and clinical information.

Method: Peripheral blood collection or dried blood spot

Step 2

Laboratory Analysis

A single blood sample into an EDTA vacutainer or a dried blood spot on FTA card is collected by a trained phlebotomist. If extracted DNA is provided, it is accepted in a DNAase-free tube.

Step 3

Report Delivery

No special care is required. The sample is labelled, tracked, and transported to the laboratory for NGS analysis.

Timeline: Reports are delivered within 3 to 4 weeks after the sample is received.

Patient Instructions

1
Before the Test:No special preparation or fasting is required. Ensure you have a valid prescription from a neurologist or clinical geneticist.
2
During the Test:The sample collection takes about 10 minutes. You will be asked to provide consent for genetic testing.
3
After the Test:You may resume all normal activities. The lab will share the report online and you can discuss it with your doctor.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify sequence variants in the PLEKHG5 gene that are associated with distal spinal muscular atrophy, autosomal recessive type 4. This confirms the diagnosis, helps clarify the genetic cause, and enables risk assessment for family members.

How to Prepare

  • Blood in EDTA vacutainer
  • Extracted DNA in DNAase-free tube
  • One drop blood on FTA card

Doctor's Notes

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

"Genetic confirmation is essential to guide management, genetic counselling and recurrence risk assessment for families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / DNAase-free tube / FTA card
Collection MethodPeripheral blood collection or dried blood spot

Sample Stability

Whole blood at room temperature: 24-48 hours
Whole blood at 2-8°C: up to 72 hours
Extracted DNA at -20°C: 1-2 years
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect labelling
  • Sample received after prolonged transit time
  • Insufficient sample volume

Understanding Your Results

The NGS assay detects variants in the PLEKHG5 gene. Results are interpreted by a clinical geneticist and reported in accordance with ACMG guidelines.
If a pathogenic or likely pathogenic variant is detected in both alleles (homozygous or compound heterozygous), this is consistent with a diagnosis of distal SMA type 4.
If a single heterozygous pathogenic variant is found, the individual may be a carrier; a second variant may not have been detected due to technical limitations.
If a variant of uncertain significance (VUS) is reported, additional familial segregation studies or functional studies may be required.
If no pathogenic variant is detected, the clinical diagnosis should be reconsidered and further genetic investigations may be warranted.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member has symptoms such as distal muscle weakness, cramps, or difficulty with fine motor tasks. Genetic testing should be done after proper genetic counselling.

Limitations

  • ⚠NGS may not reliably detect large gene deletions/duplications or structural rearrangements
  • ⚠Deep intronic variants and trinucleotide repeat expansions may not be covered
  • ⚠Absence of a detectable variant does not completely exclude a genetic cause
  • ⚠Results should be correlated with clinical findings and family history

Risks & Considerations

  • ●No significant risks associated with blood draw
  • ●Mild bruising or pain at the puncture site

Interfering Factors

  • ●Poor DNA quality or degradation
  • ●Hemolyzed or clotted blood sample
  • ●Contamination during sample collection
  • ●Insufficient DNA quantity

Compare With Similar Tests

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Frequently Asked Questions

What is the price of PLEKHG5 gene SMA distal AR type 4 NGS genetic test?
The test cost at DNA Labs India is INR 20,000. This includes home sample collection for online bookings and the raw data files are provided along with the clinical report.
Which sample is required for this test?
Blood (EDTA), extracted DNA, or one drop of blood on an FTA card can be used for the test.
Is fasting required before giving the sample?
No fasting is required for this genetic test.
How long does the test take?
The turnaround time is 3 to 4 weeks after the sample is received at the laboratory.
What is the purpose of this NGS genetic test?
The test screens for mutations in the PLEKHG5 gene that are associated with distal spinal muscular atrophy type 4, a rare autosomal recessive disorder.
Who should take this test?
It is recommended for individuals with clinical suspicion of distal SMA type 4, those with a family history of the condition, or when other motor neuron diseases need to be excluded.
What does the test report include?
The report includes NGS analysis of the PLEKHG5 gene, variant classification, and an interpretive summary. DNA Labs India also provides raw data files like FASTQ and VCF for transparency.
Will this test detect all genetic causes of SMA?
No, this test is specific to the PLEKHG5 gene. Other genes such as SMN1, GARS, BSCL2 etc. are not analysed. A broader motor neuron disease panel may be needed if the cause is unclear.
How are results interpreted for a recessive disorder?
In distal SMA type 4, two disease-causing variants (one from each parent) are needed. The report will state whether the variants are heterozygous, homozygous, or compound heterozygous, and whether they are pathogenic or likely pathogenic.
Is genetic counselling included in the test?
Yes, a genetic counselling session is performed to construct a pedigree chart and discuss the implications of the test results.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
Are there any limitations to this NGS test?
NGS may not detect large genomic deletions, deep intronic mutations, or trinucleotide repeat expansions. A negative result does not completely rule out a genetic cause and requires clinical correlation.
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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