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COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic Test

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COASY Gene Neurodegeneration with brain iron accumulation type 6 NGS Genetic Test

Short Name: COASY NBIA6 NGS Genetic Test

Also known as: COASY Gene Mutation Analysis, NBIA6 Genetic Testing, Neurodegeneration with Brain Iron Accumulation Type 6 DNA Test, COASY Sequencing

COASY Gene Neurodegeneration with brain iron accumulation type 6 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 dispatched within 3 to 4 weeks after the sample is received at 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 test is to detect disease-causing variants in the COASY gene in a patient with suspected NBIA type 6. It is used to confirm a clinical or radiological suspicion, distinguish NBIA6 from other NBIA subtypes and other movement disorders, offer information for recurrence-risk counselling, and enable patients and families to access tailored management and support.

Test Code
4401
CPT Code
N/A
ICD Code
N/A
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are dispatched within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient or guardian must complete the informed consent form and provide clinical history, relevant MRI brain reports and a three-generation family pedigree before sample collection.

Method: Peripheral blood draw / FTA card spot

Step 2

Laboratory Analysis

A small blood sample is collected into an EDTA tube or a drop of blood is applied onto the FTA card. The procedure takes only a few minutes.

Step 3

Report Delivery

The collected sample is labelled, packed and transported to the laboratory. There are no activity restrictions after sample collection.

Timeline: Reports are dispatched within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. The patient or guardian must complete the informed consent form and provide clinical history, relevant MRI brain reports and a three-generation family pedigree before sample collection.
2
During the Test:A small blood sample is collected into an EDTA tube or a drop of blood is applied onto the FTA card. The procedure takes only a few minutes.
3
After the Test:The collected sample is labelled, packed and transported to the laboratory. There are no activity restrictions after sample collection.

About This Test

Who Should Get This Test

The purpose of this NGS test is to detect disease-causing variants in the COASY gene in a patient with suspected NBIA type 6. It is used to confirm a clinical or radiological suspicion, distinguish NBIA6 from other NBIA subtypes and other movement disorders, offer information for recurrence-risk counselling, and enable patients and families to access tailored management and support.

How to Prepare

  • No fasting or special dietary preparation is required.
  • The patient should bring valid identification, clinical referral, MRI brain reports and any prior genetic testing records.
  • Informed consent and family pedigree must be completed before sample collection.
  • For FTA card collection, apply one blood drop to the marked circles and allow the card to air dry completely.

Doctor's Notes

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

"The result should be interpreted by a neurologist with experience in movement disorders and a clinical geneticist. As this test may also be relevant in reproductive counselling, the referring gynaecologist can use the confirmed diagnosis to discuss recurrence risks and prenatal options with 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 required for DNA extraction
ContainerEDTA tube / FTA card / DNA vial
Collection MethodPeripheral blood draw / FTA card spot

Sample Stability

EDTA whole blood24-48 hours
Extracted DNAStable for several months
FTA cardStable when stored dry
Sample Rejection Criteria:
  • Haemolysed or clotted sample unsuitable for DNA extraction
  • Sample received without consent form, clinical indication or referral details
  • FTA card that is wet, contaminated or not labelled correctly
  • Sample stored outside recommended conditions

Understanding Your Results

The clinical interpretation of COASY gene sequencing must be made in the light of the patient's symptoms, MRI findings, and family history. A genetics professional should explain the implications of the result before and after the test.
Pathogenic/likely pathogenic variant(s) in COASY: Consistent with a diagnosis of NBIA type 6 in a matching clinical context.
No pathogenic variant detected: Does not exclude NBIA caused by other genes or by large rearrangements not detected by this test.
Variants of uncertain significance: May require segregation analysis in family members and additional functional studies before clinical use.
Carrier result: A heterozygous pathogenic variant in an autosomal recessive disorder does not explain a phenotype but can inform reproductive risk when both parents are carriers.
⚠️ When to Consult a Doctor:

A person experiencing any combination of progressive walking difficulty, tremors, rigidity, dysarthria, cognitive impairment, seizures, or visual and sleep disturbances should be evaluated by a neurologist. If NBIA is suspected on MRI, a clinical geneticist should be consulted for a targeted COASY gene NGS test.

Limitations

  • ⚠NGS may not reliably detect large deletions, deep intronic variants or complex rearrangements in the COASY gene.
  • ⚠A negative result does not exclude NBIA caused by variants in other genes.
  • ⚠A variant of uncertain significance may require additional familial segregation and functional studies.

Risks & Considerations

  • ●Minimal pain or bruising at the blood draw site
  • ●No serious complications are expected from the blood collection procedure
  • ●Emotional impact of genetic results; genetic counselling is recommended

Interfering Factors

  • ●Prior allogeneic bone marrow transplant or blood transfusion may affect DNA testing results.
  • ●Very low DNA quality or quantity may require a repeat sample.
  • ●Incomplete clinical or family history may limit interpretation.

Frequently Asked Questions

What is the cost of the COASY Gene NBIA6 NGS Genetic Test at DNA Labs India?
The discounted price is INR 20,000 (Rs 20,000), including free home sample collection for online bookings across select Indian cities.
Why has my doctor advised this test?
Your doctor may advise this test to confirm or rule out NBIA type 6 when clinical features, MRI brain showing iron deposition in the basal ganglia, or family history suggest a genetic cause.
What is COASY gene neurodegeneration with brain iron accumulation type 6?
It is a rare inherited condition caused by mutations in the COASY gene, leading to defective coenzyme A biosynthesis, iron accumulation in the basal ganglia, and progressive neurological symptoms.
How is the NGS genetic test performed?
DNA is extracted from a blood or FTA card sample, the COASY gene is enriched and sequenced using next-generation sequencing, and variants are interpreted for their pathogenic potential.
Does this test cover all NBIA genes?
No, this is a targeted test for the COASY gene. If a broader evaluation is needed, a multi-gene NBIA panel or clinical exome sequencing may be considered by your clinician.
What type of sample is needed for this test?
Blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card is required. No fasting is needed.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India.
How long does it take to get the reports?
Reports are usually delivered within 3 to 4 weeks after the sample is received at the laboratory.
What does a 'no pathogenic variant' result mean?
It means no disease-causing change was identified in the COASY gene by this assay. It does not completely exclude NBIA due to other genes or non-coding changes not covered by this test.
Can this test be used for prenatal or presymptomatic diagnosis?
Genetic testing can be used in family contexts after proper genetic counselling and clinical correlation. Prenatal or presymptomatic testing requires consent and detailed counselling as per professional guidelines.
Is this genetic test covered by insurance?
Genetic testing is generally not covered by Indian insurance plans. It is advisable to confirm with the respective scheme. DNA Labs India currently offers a discounted cash price of INR 20,000.
How should the patient prepare for this test?
No special preparation, fasting, or dietary restrictions are required. Bring relevant medical records, MRI brain reports, and a clinical referral if available.
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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