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GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test

Short Name: GJC2 NGS Test

Also known as: GJC2 Leukodystrophy Gene Test, Hypomyelinating Leukodystrophy NGS Panel, Connexin 47 Gene Analysis, GJC2 Mutation Analysis

GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA Card samples. Results in The clinical report is delivered within 3 to 4 weeks from the date the sample is received in the laboratory. In case of incomplete samples or additional confirmation testing, the turnaround time may slightly increase.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 primary purpose of this NGS genetic test is to confirm the clinical diagnosis of hypomyelinating leukodystrophy by identifying pathogenic variants in the GJC2 gene. It also differentiates GJC2-related leukodystrophy from other similar inherited white matter disorders, enabling accurate prognosis, management, and genetic counselling for the family. The test is intended for individuals with clinical or radiological features suggestive of hypomyelinating leukodystrophy, as well as for at-risk family members when a familial mutation is known.

Test Code
4189
CPT Code
81479
ICD Code
G93.89
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop blood on FTA Card
Result Time
The clinical report is delivered within 3 to 4 weeks from the date the sample is received in the laboratory. In case of incomplete samples or additional confirmation testing, the turnaround time may slightly increase.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Please provide complete clinical history, including age of onset, symptoms, and family history. A genetic counselling session will be conducted to draw a pedigree chart and obtain informed consent. Fasting is not required.

Method: Peripheral blood draw by phlebotomist or FTA card finger-prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample (2-3 ml) in an EDTA vacutainer. If using FTA card, one drop of blood will be spotted onto the card and allowed to air-dry.

Step 3

Report Delivery

The sample should be labeled and transported to the laboratory within 72 hours under ambient or refrigerated conditions. For FTA cards, store at room temperature in a dry place. The patient can resume normal activities immediately.

Timeline: The clinical report is delivered within 3 to 4 weeks from the date the sample is received in the laboratory. In case of incomplete samples or additional confirmation testing, the turnaround time may slightly increase.

Patient Instructions

1
Before the Test:The patient or family will attend a genetic counselling session where the purpose, limitations, and implications of the test will be explained. A pedigree will be drawn to assess inheritance patterns and at-risk family members. No fasting or special preparation is needed.
2
During the Test:A blood sample is collected by a trained phlebotomist at the patient's home or at a DNA Labs India collection centre. The procedure takes less than 5 minutes and is virtually painless. For FTA cards, a simple finger-prick is performed.
3
After the Test:The sample is transported to the laboratory under controlled conditions. NGS sequencing and data analysis are initiated. Reports are typically available in 3-4 weeks and will be shared via the online portal, email, and WhatsApp. A genetic counselor will explain the results and next steps.

About This Test

Who Should Get This Test

The primary purpose of this NGS genetic test is to confirm the clinical diagnosis of hypomyelinating leukodystrophy by identifying pathogenic variants in the GJC2 gene. It also differentiates GJC2-related leukodystrophy from other similar inherited white matter disorders, enabling accurate prognosis, management, and genetic counselling for the family. The test is intended for individuals with clinical or radiological features suggestive of hypomyelinating leukodystrophy, as well as for at-risk family members when a familial mutation is known.

How to Prepare

  • Blood sample should be collected in an EDTA vacutainer to prevent clotting
  • For FTA card, apply one drop of blood to each pre-marked circle and let it dry for at least 30 minutes
  • If providing extracted DNA, ensure the DNA concentration is at least 20 ng/µl
  • Label all samples with the patient's name, date of collection, and unique identification number
  • Inform the laboratory about any recent blood transfusion or bone marrow transplant

Doctor's Notes

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

"Genetic testing for leukodystrophy is critical for accurate diagnosis and family planning. This NGS test for the GJC2 gene provides reliable results that enable informed clinical decisions and appropriate genetic counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop blood on FTA Card
Sample Volume2-3 ml blood or 2-3 µg DNA
ContainerEDTA vacutainer / DNA storage vial / FTA card
Collection MethodPeripheral blood draw by phlebotomist or FTA card finger-prick

Sample Stability

Blood (EDTA): Stable for 72 hours at 2-8°C
Extracted DNA: Stable for up to 1 year at -20°C or below
FTA card: Stable for years at room temperature in a dry, sealed environment
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Sample in wrong tube (e.g., non-EDTA tube)
  • Insufficient blood volume or DNA quantity
  • Improperly labeled or unlabeled sample
  • Sample that has been stored above 8°C for more than 72 hours

Understanding Your Results

The result of this NGS genetic test is interpreted based on the presence or absence of a pathogenic variant in the GJC2 gene. Results are reported in accordance with the American College of Medical Genetics (ACMG) guidelines.
📊

Negative (no pathogenic variant detected)

No disease-causing variant was found in the GJC2 gene. This does not rule out all genetic causes of leukodystrophy; consider testing other genes or disorders.

📊

Positive (pathogenic or likely pathogenic variant identified)

The patient has a molecularly confirmed diagnosis of GJC2-related hypomyelinating leukodystrophy. Genetic counselling and family cascade testing are recommended.

📊

Inconclusive (variant of uncertain significance identified)

A variant with unknown clinical significance was found. Additional family studies or functional analysis may be needed to determine its role.

⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if your child experiences developmental delay, loss of milestones, unexplained spasticity, or if MRI shows signs of hypomyelination. Genetic counselling is strongly advised before and after the test.

Limitations

  • ⚠This test analyzes only the GJC2 gene; mutations in other genes causing hypomyelinating leukodystrophy (e.g., PLP1, TUBB4A) will not be detected
  • ⚠Variants in non-coding regulatory regions, large deletions/duplications, and repeat expansions may not be reliably detected by this NGS panel
  • ⚠A negative result does not completely exclude a genetic cause
  • ⚠Variants of uncertain significance (VUS) may require additional family studies to clarify pathogenicity

Risks & Considerations

  • ●There are no significant physical risks associated with a blood draw, but mild bruising or dizziness may occur
  • ●Potential psychological impact of receiving a positive test result
  • ●The test may reveal incidental findings unrelated to the primary reason for testing

Interfering Factors

  • ●Hemolysis or clotted blood sample
  • ●Improper storage or transport leading to DNA degradation
  • ●Low DNA concentration or insufficient sample
  • ●Incomplete clinical information or incorrect indication
  • ●Presence of maternal cell contamination in blood samples from infants

Compare With Similar Tests

TestGJC2 Gene Leukodystrophy hypomyelinating NGS Genetic TestSanger Sequencing for GJC2 GeneLeukodystrophy NGS Panel (Multi-gene)Whole Exome Sequencing
ComparisonGJC2 Gene Leukodystrophy hypomyelinating NGS Genetic Test

Frequently Asked Questions

What is the GJC2 gene and why is it tested?
The GJC2 gene encodes the gap junction protein connexin 47, which is critical for normal myelination in the central nervous system. Mutations in GJC2 cause autosomal recessive hypomyelinating leukodystrophy. Testing for this gene helps confirm the diagnosis and guide treatment and genetic counselling.
What conditions are caused by GJC2 mutations?
Pathogenic variants in GJC2 are associated with hypomyelinating leukodystrophy (HLD2), also known as Pelizaeus-Merzbacher-like disease 1. Symptoms include nystagmus, delayed motor development, spasticity, ataxia, and intellectual disability.
Who should consider this NGS genetic test?
This test is recommended for individuals with clinical or MRI features of hypomyelinating leukodystrophy, those with a family history of GJC2-related leukodystrophy, and couples planning a pregnancy who are at risk of having an affected child.
How is the test performed?
A small blood sample (2-3 ml in an EDTA tube) or one drop of blood on an FTA card is collected. Alternatively, extracted DNA can be submitted. The sample is processed using Next Generation Sequencing to analyze the GJC2 gene for mutations.
What is the cost of the test?
The GJC2 Gene Leukodystrophy Hypomyelinating NGS Genetic Test costs INR 20000. This includes home sample collection, NGS analysis, raw data files (FASTQ, VCF), and a clinical report.
How long will the reports take?
Reports are generally available within 3 to 4 weeks from the day the sample is received in the laboratory.
What is the difference between NGS and Sanger sequencing for GJC2?
NGS can sequence the entire GJC2 gene in a single run and also allows simultaneous analysis of multiple genes. Sanger sequencing is more focused and is often used to confirm specific variants but is less efficient for discovering novel mutations.
Can this test detect all types of mutations in the GJC2 gene?
This NGS test reliably detects single nucleotide variants, small insertions and deletions, and most splice-site variants. It may not detect large genomic rearrangements, deep intronic mutations, or repeat expansions; additional testing may be needed if such mutations are suspected.
What does a positive result mean for my family?
A positive result confirms the diagnosis in the affected individual. Family members may be at risk if the mutation is inherited in an autosomal recessive manner. Genetic counselling and cascade testing of siblings and other relatives are strongly recommended.
Are there any risks involved in the test?
The test is non-invasive and carries minimal physical risk, similar to a routine blood draw. Some patients may experience minor bruising, lightheadedness, or anxiety. No serious complications are expected.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection in over 500 cities across India, including Delhi, Mumbai, Bengaluru, Hyderabad, Chennai, Kolkata, and Pune. You can book the test online and a trained phlebotomist will visit you.
Will my insurance cover the test?
Genetic tests are usually not covered by standard health insurance plans in India. However, coverage may vary depending on your policy and indication. We recommend submitting the prescription and clinical notes to your insurer for pre-authorization.
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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