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RNF216 Gene Gordon Holmes Syndrome NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

RNF216 Gene Gordon Holmes Syndrome NGS Genetic Test

Short Name: RNF216 NGS Test

Also known as: RNF216 gene mutation analysis, Gordon Holmes syndrome genetic test, RNF216 gene sequencing, Arkadia gene NGS test

RNF216 Gene Gordon Holmes Syndrome 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 generally issued 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 primary purpose of this test is to confirm a clinical diagnosis of Gordon Holmes syndrome by identifying pathogenic variants in the RNF216 gene. It also helps in recurrence risk assessment and guiding family screening.

Test Code
4125
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special dietary preparation is required. A genetic counselling session is recommended before the test to draw a pedigree chart and discuss the implications of the test result.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a peripheral blood sample in an EDTA vacutainer. For an FTA card, one drop of blood is placed on the card and air-dried.

Step 3

Report Delivery

The sample should be transported to the laboratory in the provided packaging. The patient can resume all regular activities immediately after sample collection.

Timeline: Reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Genetic counselling and a detailed family history are recommended before the test.
2
During the Test:A simple blood sample is collected, which takes only a few minutes.
3
After the Test:The sample is sent to the laboratory, and the report will be provided after 3 to 4 weeks.

About This Test

Who Should Get This Test

The primary purpose of this test is to confirm a clinical diagnosis of Gordon Holmes syndrome by identifying pathogenic variants in the RNF216 gene. It also helps in recurrence risk assessment and guiding family screening.

How to Prepare

  • Please provide complete clinical history and family pedigree information before collection.
  • Ensure the FTA card is completely air-dried before packaging.
  • Label all samples clearly with the patient name, date of birth, and collection date.

Doctor's Notes

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

"Genetic confirmation in Gordon Holmes syndrome is important for recurrence risk counselling. Coordination with an obstetrician/gynecologist helps address reproductive and hormonal concerns in affected individuals."

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 the test
ContainerEDTA Vacutainer / FTA Card / Sterile DNA tube
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

EDTA blood: stable for 48 hours at room temperature
Extracted DNA: stable for 1 week at -20 degrees Celsius
FTA card: stable for several weeks at ambient temperature
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Quantity not sufficient
  • Sample received without proper labelling
  • FTA card not fully dried or contaminated

Understanding Your Results

The clinical report should be interpreted by a clinical geneticist or a physician experienced in neurogenetic disorders. Identification of a pathogenic variant in the RNF216 gene provides molecular confirmation of Gordon Holmes syndrome.
📊

Negative

No pathogenic variants detected in the RNF216 gene. Clinical suspicion should still be reviewed by the referring physician.

📊

Positive

A pathogenic or likely pathogenic RNF216 variant was detected, supporting a molecular diagnosis of Gordon Holmes syndrome.

📊

Variant of uncertain significance

The clinical significance of the variant is unclear. Additional family testing or functional studies may be recommended.

⚠️ When to Consult a Doctor:

If you or a family member has unexplained ataxia, progressive cognitive decline, hormone deficiencies, tremors, swallowing difficulty, or a family history of Gordon Holmes syndrome, consult a neurologist and a clinical geneticist for further evaluation.

Limitations

  • ⚠NGS may not detect certain large structural rearrangements, deep intronic variants, or repeat expansions.
  • ⚠Variants of uncertain significance may be identified and may require additional family studies or functional analysis.
  • ⚠Clinical correlation with a physician is always necessary for a final diagnosis.

Risks & Considerations

  • ●Minimal pain at the blood draw site
  • ●Small bruising or swelling after blood collection
  • ●Dizziness or light-headedness during blood collection

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Sample contamination during collection
  • ●Incomplete clinical or family history
  • ●Gene coverage gaps in NGS target regions
  • ●Allelic dropout or pseudogene interference

Compare With Similar Tests

TestRNF216 Gene Gordon Holmes Syndrome NGS Genetic Test
ComparisonRNF216 Gene Gordon Holmes Syndrome NGS Genetic Test

Frequently Asked Questions

What is Gordon Holmes syndrome?
Gordon Holmes syndrome is a rare genetic disorder that affects the nervous system and endocrine glands. It is characterised by ataxia, cognitive decline or dementia, and hormone deficiencies, often caused by pathogenic variants in the RNF216 gene.
How is Gordon Holmes syndrome diagnosed?
Diagnosis is made through clinical examination, brain imaging, hormonal assessment, and confirmation by genetic testing. The RNF216 gene NGS test detects disease-causing variants and supports a definitive diagnosis.
Is the RNF216 gene test the same as a full ataxia panel?
No, this test targets the RNF216 gene only. A full ataxia panel would sequence multiple genes associated with cerebellar ataxia and related neurodegenerative conditions.
What type of mutations can this NGS test detect?
The NGS method can detect single nucleotide variants, small insertions and deletions, and splice-site variants in coding regions of the RNF216 gene. Large structural changes may not be routinely detected.
Is fasting required before giving the blood sample?
No, fasting is not required for this genetic test. You can give your sample at any time of the day.
How many days will the report take?
The clinical report is usually ready within 3 to 4 weeks after the sample is received in the laboratory.
Are raw data files shared with the report?
Yes, DNA Labs India shares raw data files including FASTQ and VCF along with the clinical report for transparency.
Can I avail home sample collection?
Yes, DNA Labs India offers free home sample collection for online bookings in many cities across India for this test.
What does a positive RNF216 test mean?
A positive result indicates that a pathogenic or likely pathogenic variant in the RNF216 gene was identified, confirming a molecular diagnosis of Gordon Holmes syndrome.
Who should consider this genetic test?
This test should be considered by individuals with unexplained ataxia, dementia-like cognitive symptoms, hypogonadotropic hypogonadism, or a family history of RNF216-related disease.
Is genetic counselling needed before the test?
Yes, genetic counselling is recommended before and after the test. It helps draw a family pedigree, understand the implications, and discuss recurrence risk.
How much does this test cost in India?
The test costs INR 20,000 at DNA Labs India, which includes genetic counselling and NGS analysis for the RNF216 gene.
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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