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CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic Test

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CPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic Test

Short Name: CPLANE1 OFD6 NGS

Also known as: OFD6 Genetic Test, CPLANE1 Mutation Analysis, Orofaciodigital Syndrome Type 6 NGS Panel

CPLANE1 Gene Orofaciodigital syndrome 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 Results are typically available within 3 to 4 weeks from the date the sample is received by the laboratory.. Free home collection in 300+ cities across India.

NGS Gene Panel🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 6 by identifying pathogenic mutations in the CPLANE1 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in future pregnancies, and genetic counseling. The test helps differentiate OFD6 from other types of OFD and related ciliopathies, guiding appropriate management and surveillance.

Test Code
5891
CPT Code
81407
ICD Code
Q87.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically available within 3 to 4 weeks from the date the sample is received by the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting required. A genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.

Method: Venipuncture or Fingerstick

Step 2

Laboratory Analysis

A small blood sample is drawn from a vein in the arm, or a fingerstick blood spot is collected on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No special precautions are needed. The sample is sent to the laboratory for analysis. Results are typically available in 3-4 weeks.

Timeline: Results are typically available within 3 to 4 weeks from the date the sample is received by the laboratory.

Patient Instructions

1
Before the Test:Before the test, a genetic counseling session is provided to discuss the purpose, risks, benefits, and alternatives. The counselor will draw a pedigree to assess inheritance patterns and identify at-risk family members.
2
During the Test:The test involves a simple blood draw or fingerstick. No anesthesia is required. The procedure takes about 5 minutes.
3
After the Test:After the test, you can resume normal activities. Results will be communicated by the genetic counselor, who will explain the findings and their implications.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of Orofaciodigital syndrome type 6 by identifying pathogenic mutations in the CPLANE1 gene. It also aids in carrier testing for at-risk family members, prenatal diagnosis in future pregnancies, and genetic counseling. The test helps differentiate OFD6 from other types of OFD and related ciliopathies, guiding appropriate management and surveillance.

How to Prepare

  • Ensure the patient's identity is verified with a valid ID.
  • Use EDTA vacutainer for blood collection; mix gently to prevent clotting.
  • If using FTA card, apply one drop of blood onto the designated circle and allow to air dry.
  • Label the sample with patient's name, date of birth, and collection date.
  • Transport the sample to the laboratory at ambient temperature within 24 hours.

Doctor's Notes

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

"Genetic testing for OFD6 is crucial for accurate diagnosis and family planning. Early identification of CPLANE1 mutations can guide management and surveillance."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or Fingerstick

Sample Stability

Blood in EDTA: stable for 48 hours at 2-8°C
FTA card: stable for several months at room temperature
Extracted DNA: stable for years at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improperly labeled sample
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The interpretation of the CPLANE1 gene NGS test should be performed by a clinical geneticist. Results are reported as positive, negative, or variant of uncertain significance (VUS). A positive result confirms the diagnosis of OFD6, while a negative result does not completely rule out the condition if clinical suspicion is high. VUS results require further investigation and family segregation studies.
📊

Positive (pathogenic variant detected)

Confirms diagnosis of OFD6. Genetic counseling is recommended for the patient and family. Prenatal testing may be offered in future pregnancies.

📊

Negative (no pathogenic variant detected)

No mutation found in CPLANE1 gene. If clinical features are strong, consider testing other OFD-related genes or other genetic causes.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was found but its clinical significance is unknown. Additional testing of family members may help classify the variant.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or pediatrician if you or your child exhibit features of OFD6, such as cleft lip/palate, extra digits, or developmental delays. Also, consult if there is a family history of OFD6 or if you are planning a pregnancy and are concerned about genetic risks.

Limitations

  • ⚠This test detects mutations in the CPLANE1 gene only; other genes associated with OFD are not analyzed.
  • ⚠Variants of uncertain significance may be reported; further family studies may be needed.
  • ⚠Regulatory region mutations or deep intronic variants may not be detected by standard NGS.
  • ⚠Test does not assess non-genetic causes of similar symptoms.

Risks & Considerations

  • ●Minimal risk of bruising or infection at the blood draw site
  • ●Psychological impact of receiving genetic results
  • ●Potential for incidental findings unrelated to the primary condition

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion (within 2 weeks) may dilute DNA
  • ●Bone marrow transplantation can affect results
  • ●Incorrect sample labeling or handling

Compare With Similar Tests

TestCPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic TestWhole Exome Sequencing (WES)Targeted OFD PanelSanger Sequencing
ComparisonCPLANE1 Gene Orofaciodigital syndrome type 6 NGS Genetic Test

Frequently Asked Questions

What is Orofaciodigital syndrome type 6?
Orofaciodigital syndrome type 6 (OFD6) is a rare genetic disorder caused by mutations in the CPLANE1 gene. It affects the development of the face, oral cavity, and digits, and may also involve brain, kidney, and other organ abnormalities.
How is OFD6 inherited?
OFD6 is inherited in an autosomal recessive pattern, meaning a child must inherit two mutated copies of the CPLANE1 gene, one from each parent, to develop the condition.
What are the common symptoms of OFD6?
Common symptoms include cleft lip/palate, extra fingers or toes, lobulated tongue, brain malformations, intellectual disability, and kidney abnormalities. Symptoms vary widely among affected individuals.
Why is NGS used for this test?
NGS allows for comprehensive sequencing of the CPLANE1 gene in a single run, providing high accuracy and the ability to detect various types of mutations, including point mutations and small insertions/deletions.
What is the cost of the CPLANE1 gene NGS test?
The test costs INR 20,000, which includes the genetic counseling session and the laboratory analysis. Home sample collection is available at no extra charge.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample is received by the laboratory.
Is fasting required before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before sample collection.
What sample is needed for the test?
A blood sample (2-3 ml in an EDTA tube) or a dried blood spot on an FTA card is required. Extracted DNA can also be submitted.
Can this test be done during pregnancy?
Yes, prenatal testing can be performed using fetal DNA obtained through amniocentesis or CVS, but this requires prior genetic counseling and is usually done after a confirmed family mutation.
What does a negative result mean?
A negative result means no pathogenic mutation was found in the CPLANE1 gene. However, it does not completely rule out OFD6 if clinical suspicion is high; other genetic causes may be considered.
Will insurance cover the cost?
Insurance coverage varies. Most public schemes like PMJAY do not cover genetic tests, but private insurance may partially cover if deemed medically necessary. Please check with your provider.
How can I book this test?
You can book online through the DNA Labs India website or call our customer care. Home sample collection is available across major cities in India.
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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