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SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test

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SEPSECS Gene Pontocerebellar hypoplasia type 2D NGS Genetic Test

Short Name: SEPSECS PCH2D NGS Test

Also known as: SEPSECS Gene Sequencing, PCH2D Genetic Test, Pontocerebellar Hypoplasia Type 2D NGS Panel, SEPSECS Mutation Test

SEPSECS Gene Pontocerebellar hypoplasia type 2D 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 usually available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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 NGS genetic test is to detect pathogenic or likely pathogenic variants in the SEPSECS gene to confirm or rule out a diagnosis of Pontocerebellar Hypoplasia Type 2D. It also helps identify the genetic cause in affected individuals, enables carrier testing in family members, and provides information for reproductive counselling and recurrence-risk assessment.

Test Code
4477
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Fasting is not required for this genetic test. However, the patient and family should complete a genetic counselling session before sample collection so that a detailed three-generation pedigree can be drawn and the limitations and benefits of the test are understood. Please carry a valid doctor’s referral and any previous MRI or neurological evaluation reports.

Method: Venipuncture / FTA spot / extracted DNA submission

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample in an EDTA tube, or a few drops of blood will be placed on an FTA card. If extracted DNA is being provided, it will be verified for quantity and quality. The procedure takes only a few minutes.

Step 3

Report Delivery

No special precautions are needed after sample collection. The sample is transported to the laboratory under controlled temperature. Patients will be notified once the report is ready, and online portal access will be provided.

Timeline: Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Fasting is not required. However, the referring clinician must provide a clinical summary and previous neurological or imaging reports. A genetic counselling session should be completed before the test to draw a family pedigree.
2
During the Test:The patient will give a blood sample, provide a dried blood spot on an FTA card, or submit an extracted DNA sample. The sample is labelled and sent to the laboratory for next-generation sequencing. The procedure usually takes less than 15 minutes.
3
After the Test:The laboratory will process the sample and share the report and raw data once available. The patient should make an appointment with a genetic counsellor or doctor to discuss the result and its implications.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the SEPSECS gene to confirm or rule out a diagnosis of Pontocerebellar Hypoplasia Type 2D. It also helps identify the genetic cause in affected individuals, enables carrier testing in family members, and provides information for reproductive counselling and recurrence-risk assessment.

How to Prepare

  • Use the EDTA blood tube provided in the collection kit.
  • If using the FTA card, allow the blood spot to dry completely before sealing.
  • Label the sample with the patient’s full name, date of birth, and collection date.
  • Store the sample at room temperature or 2-8°C as per the kit instructions and courier it to the lab within 48 hours.

Doctor's Notes

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

"From a prenatal perspective, confirming a molecular diagnosis in an affected child is the first step in offering accurate recurrence risk counselling and prenatal or preimplantation genetic testing options to the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection kit instructions
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture / FTA spot / extracted DNA submission

Sample Stability

Whole blood in EDTA: transport to laboratory within 72 hours at 2-8°C
FTA card blood spot: dry at room temperature and store as per kit instructions
Extracted DNA: store at -20°C until processing
Sample Rejection Criteria:
  • Clotted, haemolysed, or frozen whole blood sample
  • Unlabeled or mislabeled samples
  • Insufficient blood volume or insufficient FTA spots
  • Sample received after more than 72 hours at improper temperature

Understanding Your Results

The test report should be interpreted by a qualified clinical geneticist or neurologist in the context of clinical findings, imaging, and family history. Pathogenic or likely pathogenic variants in the SEPSECS gene support the diagnosis of PCH2D. A negative result does not completely exclude PCH2D or other genetic causes.
Positive: A pathogenic/likely pathogenic variant in the SEPSECS gene is detected. This confirms the genetic diagnosis of PCH2D and allows recurrence-risk counselling.
Negative: No pathogenic variant is identified. Clinical suspicion may remain; other genetic causes should be considered.
Variant of Uncertain Significance: A variant is found, but its role in PCH2D is not yet known. Further family testing and segregation analysis may clarify its significance.
⚠️ When to Consult a Doctor:

Consult a neurologist, paediatrician, or clinical geneticist if there are concerns about developmental delay, low muscle tone, ataxia, seizures, or a family history of inherited neurological disease.

Limitations

  • ⚠The NGS test identifies variants in the SEPSECS gene; it does not rule out mutations in other genes associated with pontocerebellar hypoplasia or other neurodevelopmental disorders.
  • ⚠Some intronic, deep splice-site, or structural variants may not be detected by standard NGS.
  • ⚠Variants of uncertain significance may require additional family studies or functional analysis.
  • ⚠The result cannot predict the exact course or severity of symptoms in every affected individual.

Risks & Considerations

  • ●No significant physical risk from blood collection
  • ●Mild pain or bruising at the puncture site
  • ●Potential psychological stress related to genetic test results

Interfering Factors

  • ●Poor quality or degraded DNA from the sample
  • ●Inadequate quantity of extracted DNA
  • ●Sample mix-up or incorrect labeling
  • ●Laboratory PCR contamination may invalidate results

Compare With Similar Tests

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Frequently Asked Questions

What is Pontocerebellar Hypoplasia Type 2D?
PCH2D is a rare inherited disorder caused by mutations in the SEPSECS gene. It leads to underdevelopment of the pons and cerebellum, resulting in severe motor and intellectual disability, hypotonia, ataxia, and seizures.
What is the SEPSECS gene PCH2D NGS genetic test?
This test uses Next Generation Sequencing to analyze the SEPSECS gene for pathogenic variants associated with Pontocerebellar Hypoplasia Type 2D. It is a definitive method for confirming diagnosis when the clinical picture matches.
Who should undergo this test?
It is recommended for individuals with developmental delay, hypotonia, seizures, or ataxia suggestive of PCH2D, and for families with a history of PCH2D. Testing is also useful for carrier and reproductive risk assessment.
What sample is required?
The test can be performed on a blood sample in an EDTA tube, one drop of blood on an FTA card, or extracted DNA. The exact requirement is mentioned in the test kit instructions.
Is fasting required before the test?
No, fasting is not required. The test can be done at any time of the day.
What is the cost of the test?
The cost is Rs 20,000 (INR 20,000). This includes the sample collection kit, laboratory testing, clinical reporting, and raw data files.
How long does the report take?
The reports are generally available within 3 to 4 weeks after the sample reaches the laboratory.
What does the clinical report include?
The report includes details of the SEPSECS gene analysis, interpretation of variants according to ACMG guidelines, the clinical conclusion, and a recommendation for genetic counselling.
Does DNA Labs India provide raw data?
Yes, DNA Labs India is transparent and shares raw FASTQ and VCF files along with the conclusive clinical report.
Is genetic counselling necessary?
Yes, pre-test and post-test genetic counselling is strongly recommended. It helps in drawing a family pedigree, understanding inheritance, and interpreting the result in the context of the family.
Can this test be used for prenatal diagnosis?
The same technology can be used for prenatal diagnosis if a pathogenic variant has been identified in the family, but it must be performed by a qualified fetal medicine specialist after proper counselling.
Are there any risks?
The blood draw carries only minor risks such as slight pain or bruising. There are no major physical risks from the test itself.
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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