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PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic Test

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PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic Test

Short Name: PHF6 Gene BFLS NGS Test

Also known as: PHF6 Gene Sequencing, BFLS Genetic Test, Borjeson-Forssman-Lehmann Syndrome NGS Test

PHF6 Gene Borjeson-Forssman-Lehmann 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 available in 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

This test is intended to detect pathogenic variants in the PHF6 gene using next-generation sequencing. It helps confirm a clinical diagnosis of Borjeson-Forssman-Lehmann syndrome, supports clinical management, and provides genetic information that can be used for family counselling and risk assessment.

Test Code
3939
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counselling session is recommended before the test to draw a pedigree chart of family members affected with Borjeson-Forssman-Lehmann syndrome.

Method: Venous blood collection / FTA card blood spot / purified DNA sample submission

Step 2

Laboratory Analysis

A blood sample will be collected through venepuncture, or one drop of blood will be placed on an FTA card. Extracted DNA samples can also be submitted as per laboratory guidelines.

Step 3

Report Delivery

No special restrictions are required after sample collection. The sample should be transported to the laboratory for processing according to laboratory instructions.

Timeline: Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Discuss the indication for testing with your doctor. A genetic counselling session is recommended to draw a pedigree chart of affected family members before undergoing the PHF6 gene NGS test.
2
During the Test:A blood or FTA card sample will be collected. For blood collection, mild pain or bruising may occur. The sample is then sent to the laboratory for Next-Generation Sequencing analysis.
3
After the Test:After sample collection, no restrictions are needed. The laboratory will process the sample, and the clinical report along with raw data files will be shared in 3 to 4 weeks.

About This Test

Who Should Get This Test

This test is intended to detect pathogenic variants in the PHF6 gene using next-generation sequencing. It helps confirm a clinical diagnosis of Borjeson-Forssman-Lehmann syndrome, supports clinical management, and provides genetic information that can be used for family counselling and risk assessment.

How to Prepare

  • A genetic counselling session should be done before the test to document family history and prepare a pedigree chart
  • No fasting is required
  • For blood sample, collect in an EDTA tube
  • For FTA card, apply one drop of blood to the designated area
  • For extracted DNA, follow the laboratory's quantity and quality requirements

Doctor's Notes

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

"Genetic testing for PHF6 should be undertaken with genetic counselling, as results may affect not only the patient but also family members. A confirmed molecular diagnosis can guide surveillance and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card / DNA sample vial
Collection MethodVenous blood collection / FTA card blood spot / purified DNA sample submission

Sample Stability

For blood samples, transport to the laboratory as soon as possible
For FTA card samples, store in a dry place at room temperature
Sample Rejection Criteria:
  • Improperly labelled sample
  • Insufficient DNA quantity or quality
  • Hemolyzed or clotted blood sample
  • Sample received without required consent or clinical information

Understanding Your Results

The result of this NGS test should be interpreted by a clinical geneticist in the context of the patient's clinical features, family history, and available supporting information. A pathogenic or likely pathogenic variant in the PHF6 gene supports a clinical diagnosis of Borjeson-Forssman-Lehmann syndrome.
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⚠️ When to Consult a Doctor:

Consult a neurologist, pediatrician, or clinical geneticist if the patient has unexplained intellectual disability, delayed development, dysmorphic facial features, seizures, behavioral issues, short stature with obesity, hypogonadism, or a family history of Borjeson-Forssman-Lehmann syndrome.

Limitations

  • ⚠This test is limited to the PHF6 gene and does not analyze other genes that may cause similar clinical presentations
  • ⚠NGS may not reliably detect large genomic deletions, insertions, or structural rearrangements
  • ⚠Deep intronic or regulatory variants may not be covered by this targeted test
  • ⚠If a familial pathogenic variant is known, a different testing strategy such as Sanger sequencing may be required
  • ⚠Interpretation is based on the available clinical phenotype and scientific knowledge at the time of reporting

Risks & Considerations

  • ●Blood sample collection may cause mild pain, bruising, or bleeding
  • ●Anxiety related to the testing procedure or waiting for results
  • ●Genetic test results may have emotional and family implications

Interfering Factors

  • ●Incomplete or inaccurate clinical history may affect interpretation of the genetic report
  • ●Variants in the PHF6 gene may be classified as variants of uncertain significance
  • ●Genetic heterogeneity means a negative PHF6 result does not exclude other disorders with similar features
  • ●Low-level mosaicism may not be detected by standard NGS
  • ●Poor DNA quality or quantity can compromise testing accuracy

Frequently Asked Questions

What is the PHF6 Gene Borjeson-Forssman-Lehmann Syndrome NGS Genetic Test?
It is a targeted Next-Generation Sequencing test that analyzes the PHF6 gene to detect mutations associated with Borjeson-Forssman-Lehmann syndrome. It is used to confirm the clinical diagnosis and support genetic counselling.
What is the cost of the PHF6 gene BFLS NGS genetic test at DNA Labs India?
The test costs INR 20000. DNA Labs India offers free home sample collection for online bookings at this discounted price.
What sample is required for this genetic test?
The test can be done on blood, extracted DNA, or one drop of blood collected on an FTA card.
Do I need to fast before the test?
No fasting is required for this PHF6 gene NGS genetic test. You should follow the instructions given by your doctor or the laboratory.
Who should undergo this test?
Individuals with clinical features suggestive of Borjeson-Forssman-Lehmann syndrome such as intellectual disability, delayed development, facial dysmorphism, seizures, or a family history of PHF6-related disease may be considered for testing.
How long will the reports take?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
What symptoms are seen in Borjeson-Forssman-Lehmann syndrome?
Common symptoms include intellectual disability, delayed development, distinctive facial features, seizures, behavioral issues, short stature, obesity, hand and foot abnormalities, and hypogonadism.
What is the role of genetic counselling in this test?
Genetic counselling is recommended before and after testing. It helps in drawing a pedigree chart, choosing the appropriate test, interpreting the result, and explaining the implications for the family.
Will I receive raw data files with the report?
Yes, DNA Labs India is transparent and shares Raw Data, FASTQ, and VCF files along with the clinical report for this PHF6 gene NGS test.
How is Borjeson-Forssman-Lehmann syndrome diagnosed?
Diagnosis is usually suspected from clinical features. A PHF6 gene genetic test using NGS can confirm the diagnosis by identifying a pathogenic variant in the gene.
Can a negative result rule out Borjeson-Forssman-Lehmann syndrome?
A negative result reduces the likelihood of a PHF6-related diagnosis, but it does not completely exclude the condition. Large deletions, deep intronic changes, or low-level mosaicism may not be detected by NGS. A clinical geneticist should interpret the result.
What are the indications for ordering the PHF6 gene BFLS NGS test?
Indications include intellectual disability, global developmental delay, dysmorphic features suggestive of BFLS, seizure disorder, behavioral problems, short stature with obesity, hypogonadism, and family history of BFLS.
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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