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SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test

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SLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test

Short Name: SLC6A8 NGS Test

Also known as: SLC6A8 Gene Mutation Analysis, Creatine Transporter Deficiency Genetic Test, X-Linked Creatine Deficiency Syndrome NGS Test

SLC6A8 Gene Creatine deficiency syndrome X-linked 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 Results are available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Genetic Test (NGS)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to identify disease-causing mutations in the SLC6A8 gene to confirm or rule out X-linked creatine deficiency syndrome. It is also used for carrier detection in at-risk female relatives and to guide clinical management and genetic counseling.

Test Code
3985
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Fasting is not necessary. Please bring any previous medical records or referrals if available.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be collected by a trained phlebotomist. If using an FTA card, a simple finger-prick blood spot will be taken.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be safely transported to the laboratory for genetic analysis.

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

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counseling session is recommended prior to testing to discuss the benefits and limitations of the test.
2
During the Test:During sample collection, minimal discomfort from the needle prick may be felt. For FTA card, a simple finger-prick is performed.
3
After the Test:After sample collection, you may leave immediately. Results will be shared after 3 to 4 weeks. You can follow up with your genetic counselor for result interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing mutations in the SLC6A8 gene to confirm or rule out X-linked creatine deficiency syndrome. It is also used for carrier detection in at-risk female relatives and to guide clinical management and genetic counseling.

How to Prepare

  • No fasting required.
  • Inform the lab if you are on any anticoagulant medications (though genetic testing is unaffected).
  • For home collection, keep an ice pack ready if instructed by the phlebotomist.
  • Please provide a valid ID and clinical history form.

Doctor's Notes

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

"This NGS test for SLC6A8 is recommended for patients presenting with intellectual disability, seizures, or developmental delay where a creatine deficiency syndrome is suspected. Genetic counseling and family history evaluation are essential before testing."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Whole blood in EDTA: 2-8°C for up to 72 hours
FTA card: Room temperature for up to 6 months
Extracted DNA: -20°C for long-term storage up to 1 year
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Inadequate amount of DNA
  • Sample without proper label
  • Long transit time (>48 hours) at ambient temperature

Understanding Your Results

The interpretation of genetic results should be carried out by a clinical geneticist. Positive findings confirm the molecular diagnosis, while negative results should be interpreted with caution. Genetic counseling is recommended before and after the test to discuss inheritance, recurrence risk, and clinical management.
📊

Positive (pathogenic variant detected)

Presence of a pathogenic variant in the SLC6A8 gene is consistent with a diagnosis of X-linked creatine deficiency syndrome. Clinical correlation with biochemical tests is recommended.

📊

Negative (no pathogenic variant detected)

No disease-causing variant was found in the SLC6A8 gene. This does not exclude the disorder if there is strong clinical suspicion; other genetic and metabolic causes may be considered.

📊

Variant of uncertain significance

A genetic variant was found whose clinical significance is not yet known. Further family studies and functional analysis may be required.

⚠️ When to Consult a Doctor:

If you have a family history of SLC6A8 deficiency or exhibit symptoms such as intellectual disability, seizures, and speech delay, consult a neurologist or clinical geneticist for appropriate genetic testing and counseling.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic mutations, or repeat expansions within the SLC6A8 gene.
  • ⚠A negative result does not completely rule out creatine deficiency syndrome; biochemical and functional studies are recommended.
  • ⚠Variants of uncertain significance require familial segregation studies.

Risks & Considerations

  • ●Mild pain or bruising at blood collection site
  • ●Slight bleeding
  • ●Dizziness or fainting during blood draw (rare)

Interfering Factors

  • ●Clotted blood sample
  • ●Poor DNA quality or concentration
  • ●Incorrect sample labelling
  • ●Sample transported at room temperature for prolonged periods

Compare With Similar Tests

TestSLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic TestSLC6A8 NGS Genetic TestSanger Sequencing
ComparisonSLC6A8 Gene Creatine deficiency syndrome X-linked NGS Genetic Test

Frequently Asked Questions

What is the SLC6A8 gene creatine deficiency syndrome X-linked?
It is an inherited metabolic disorder caused by mutations in the SLC6A8 gene, affecting creatine transport into the brain and muscle. This leads to creatine deficiency and symptoms such as intellectual disability, seizures, and speech delay. It is inherited in an X-linked pattern.
What does the SLC6A8 NGS genetic test detect?
This test uses next-generation sequencing to analyze the SLC6A8 gene for mutations, including single nucleotide variants and small insertions/deletions, that can cause creatine deficiency syndrome.
Who should be tested for this condition?
Individuals with unexplained developmental delay, intellectual disability, seizures, or behavioral problems, especially males with a clinical suspicion of creatine deficiency, and family members of known cases for carrier testing.
Is fasting required before the test?
No, fasting is not required for this genetic test. You may eat and drink normally before sample collection.
How is the test performed?
A blood sample is collected (or an FTA card with a drop of blood). DNA is extracted and the SLC6A8 gene is sequenced using NGS technology. The results are interpreted by a clinical geneticist.
What is the cost of the test?
The test costs INR 20,000. DNA Labs India offers this test at a discounted price of Rs 20000.0 with free home sample collection.
How long does it take to get results?
Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India provides free home sample collection in over 100 cities across India for online bookings.
What do the results mean?
If a pathogenic variant is found, it confirms the diagnosis of SLC6A8-related creatine deficiency syndrome. If no variant is found, it reduces the likelihood but does not entirely exclude the disorder; additional testing may be advised.
Can females be carriers and should they be tested?
Yes, females can be carriers of X-linked disorders. Carrier testing is recommended for at-risk females with a family history. Some female carriers may have mild symptoms or be asymptomatic.
Is genetic counseling recommended?
Yes, pre-test and post-test genetic counseling is recommended to discuss the implications of results and for informed consent, especially for predictive or carrier testing.
Are there any risks or side effects of the test?
The test requires a blood sample or a heel/finger-prick. Risks are minimal, such as slight pain or bruising at the puncture site. No serious side effects are associated with the genetic 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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