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PKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic Test

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PKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic Test

Short Name: PKHD1L1 Gene Autism NGS

Also known as: PKHD1L1 Gene Autism Test, PKHD1L1 Related NGS Genetic Test, Autism Susceptibility Genetic Test (PKHD1L1)

PKHD1L1 Gene Autism, PKHD1L1 Related 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 The PKHD1L1 NGS genetic test report is usually delivered within 3 to 4 weeks from sample receipt. The timeline includes quality control, sequencing, bioinformatic analysis, variant interpretation, and clinical review.. Free home collection in 300+ cities across India.

NGS-based Genetic Test🏠 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 the PKHD1L1-related NGS genetic test is to detect clinically significant variants in the PKHD1L1 gene that may be associated with autism spectrum disorder. It is intended to support a clinical diagnosis, guide genetic counselling, assess family recurrence risk, and help with personalised management planning.

Test Code
3929
CPT Code
NA
ICD Code
F84.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The PKHD1L1 NGS genetic test report is usually delivered within 3 to 4 weeks from sample receipt. The timeline includes quality control, sequencing, bioinformatic analysis, variant interpretation, and clinical review.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required for this genetic test. A pre-test genetic counselling session is recommended to document clinical history, draw a three-generation pedigree, answer questions, and obtain informed consent.

Method: Peripheral blood draw or one drop blood on FTA card

Step 2

Laboratory Analysis

A small blood sample is collected from the arm or a single drop of blood is placed on an FTA card. If extracted DNA is provided, the laboratory confirms sample suitability before processing.

Step 3

Report Delivery

There are no activity restrictions after sample collection. Continue regular diet and medications as advised by your treating physician. The sample should be transported to the laboratory at room temperature in the provided packaging.

Timeline: The PKHD1L1 NGS genetic test report is usually delivered within 3 to 4 weeks from sample receipt. The timeline includes quality control, sequencing, bioinformatic analysis, variant interpretation, and clinical review.

Patient Instructions

1
Before the Test:Discuss the purpose, limitations, and possible implications of genetic testing with your doctor. A referral or counselling session may be required before the sample is collected for PKHD1L1 NGS testing.
2
During the Test:The sample collection is quick and painless. Blood may be drawn from a vein, or one drop of blood may be taken on an FTA card. Extracted DNA samples can also be submitted if already available.
3
After the Test:No special care is needed after the sample collection. You may resume normal activities. The laboratory will process the sample for NGS, and the report will be delivered digitally once interpretation is complete.

About This Test

Who Should Get This Test

The purpose of the PKHD1L1-related NGS genetic test is to detect clinically significant variants in the PKHD1L1 gene that may be associated with autism spectrum disorder. It is intended to support a clinical diagnosis, guide genetic counselling, assess family recurrence risk, and help with personalised management planning.

How to Prepare

  • The sample must be clearly labelled with the patient's full name and date of collection.
  • Blood samples must be collected in the correct EDTA or FTA card container as instructed.
  • For FTA cards, allow the blood spot to dry completely before placing it in the transport pouch.
  • Ensure the sample is dispatched to the laboratory within the recommended time frame.
  • Do not freeze whole blood or FTA cards before processing.

Doctor's Notes

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

"Genetic testing for autism spectrum disorder should never be used in isolation. A PKHD1L1 result must be interpreted with the child's developmental history, clinical findings, and family pedigree. If a variant is found, parental testing and recurrence-risk counselling are essential."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA Vacutainer / FTA Card / DNA vial
Collection MethodPeripheral blood draw or one drop blood on FTA card

Sample Stability

Whole blood in EDTA: 24 to 48 hours at room temperature
Whole blood in EDTA: up to 72 hours when refrigerated at 2 to 8°C
FTA card blood spot: stable for weeks at room temperature
Extracted DNA: stable for weeks at 2 to 8°C and long-term at -20°C
Sample Rejection Criteria:
  • Hemolysed or clotted blood sample
  • Insufficient sample quantity
  • Incorrect anticoagulant tube
  • Unlabelled or mislabelled sample
  • FTA card damaged by moisture or extreme heat
  • Undisclosed sample sent without proper clinical information

Understanding Your Results

The PKHD1L1 NGS genetic test report should be interpreted by a qualified clinician in the context of the individual's full clinical picture, family history, and developmental assessment. Variant classification follows internationally accepted standards, including ACMG/AMP guidelines.
📊

No pathogenic variant detected

Negative result. No PKHD1L1 variant was found. Clinical evaluation for other genetic and non-genetic causes should continue.

📊

Pathogenic or likely pathogenic variant detected

Positive result. The variant may contribute to the autism phenotype. Genetic counselling, parental testing, and family recurrence-risk assessment are recommended.

📊

Variant of uncertain significance (VUS)

Inconclusive result. The clinical significance is currently unknown. Additional family studies, functional studies, or reclassification may be needed.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, paediatric neurologist, or genetic counsellor if your child has features of autism spectrum disorder, if the PKHD1L1 result is positive or uncertain, or if you need support understanding recurrence risks and family planning options.

Limitations

  • ⚠This test only analyses the PKHD1L1 gene and does not exclude other genetic or non-genetic causes of autism.
  • ⚠A negative result does not mean the individual does not have autism.
  • ⚠Variants of uncertain significance may not provide a definitive clinical answer.
  • ⚠Targeted NGS may not detect large genomic rearrangements, repeat expansions, or some deep intronic changes.
  • ⚠This test should be interpreted together with a complete clinical and neurodevelopmental evaluation.

Risks & Considerations

  • ●Minimal discomfort during blood collection
  • ●Small bruise or swelling at the puncture site
  • ●Very rare risk of infection

Interfering Factors

  • ●Poor DNA quality or insufficient quantity
  • ●PCR amplification failure
  • ●Sample mix-up or incorrect labelling
  • ●Genetic heterogeneity in autism spectrum disorder
  • ●Deep intronic, structural, or repeat-expansion variants not detected by targeted NGS

Compare With Similar Tests

TestPKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic TestPKHD1L1 Targeted NGS TestWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)
ComparisonPKHD1L1 Gene Autism, PKHD1L1 Related NGS Genetic Test

Frequently Asked Questions

What is the PKHD1L1 Gene Autism NGS Genetic Test?
It is a targeted next-generation sequencing test that reads the coding and flanking regions of the PKHD1L1 gene to detect sequence variants that may be associated with autism spectrum disorder.
How is the PKHD1L1 test different from whole exome sequencing?
This test focuses only on the PKHD1L1 gene. Whole exome sequencing covers nearly all protein-coding genes. This targeted test is useful when PKHD1L1 is suspected or as part of a focused autism evaluation.
Does a negative PKHD1L1 result rule out autism?
No. Autism has many genetic and non-genetic causes. A negative result means no clinically significant variant was found in PKHD1L1; it does not exclude other genetic or environmental causes.
What sample do I need to provide for the test?
You can provide peripheral blood, extracted DNA, or one drop of blood on an FTA card. The exact sample type will be confirmed at the time of booking.
Is fasting required for the PKHD1L1 genetic test?
No. Fasting is not required because this is a DNA-based genetic test. The sample can be collected at any time of the day.
How long will the report take?
The clinical report is usually available in 3 to 4 weeks from the time the sample reaches the laboratory. This time is needed for NGS sequencing, bioinformatics analysis, and clinical interpretation.
What is the cost of the PKHD1L1 NGS genetic test in India?
The special discounted price is Rs 20000 inclusive of home sample collection at DNA Labs India. The test is available across India with free home collection.
Will I receive raw data and VCF files with my report?
Yes. DNA Labs India provides raw data, FASTQ files, and VCF files along with the conclusive clinical report. You should request and receive these files for transparency.
Can this test guide treatment for autism?
The result can inform genetic counselling, recurrence risk assessment, and medical management. It does not provide a cure, but it may help personalise support strategies for ASD.
Who should consider getting this test?
Individuals with autism spectrum disorder, unexplained developmental delay, or a family history of PKHD1L1-related variants may consider this test after clinical and genetic counselling.
Is this test covered by insurance in India?
Coverage is variable. Government schemes may not include this specific NGS test. It is best to check with your insurance provider and treating physician before testing.
Can the test detect all genetic variants in PKHD1L1?
Standard targeted NGS detects single-nucleotide variants and small insertions or deletions. Large structural rearrangements, deep intronic changes, or repeat expansions may not be detected.
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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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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