PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test
Short Name: PGAP1 NGS Test
Also known as: PGAP1-Related Intellectual Disability Genetic Test, PGAP1 Gene Sequencing Test, Autosomal Recessive Intellectual Disability Type 42 Gene Test, PGAP1 NGS Panel
PGAP1 Gene Mental retardation, autosomal recessive type 42 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 delivered within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The primary purpose of this NGS test is to detect disease-causing variants in the PGAP1 gene to confirm or rule out autosomal recessive type 42 intellectual disability. It is also used for carrier detection and recurrence-risk counseling in affected families.
- Test Code
- 4267
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date of sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Please provide complete clinical history, including age of onset, developmental milestones, seizure history, and any previous genetic test reports. A genetic counseling session will be arranged to draw a family pedigree and identify at-risk relatives.
Method: Blood collection or FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube. For FTA-card testing, a single drop of blood is applied to the card. The procedure is quick and does not require any special preparation.
Report Delivery
No post-test precautions are needed. The specimen is transported to the genetics laboratory at ambient temperature. The report will be released in 3 to 4 weeks, and a genetic counselor will explain the results if required.
Timeline: Reports are delivered within 3 to 4 weeks from the date of sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this NGS test is to detect disease-causing variants in the PGAP1 gene to confirm or rule out autosomal recessive type 42 intellectual disability. It is also used for carrier detection and recurrence-risk counseling in affected families.
How to Prepare
- No fasting is required.
- For blood sample: collect in an EDTA tube, fill to the indicated volume, and mix gently.
- For FTA card: apply one drop of blood in the marked circle and allow it to air dry.
- Ensure the request form is completed with clinical history and pedigree details.
- Keep the sample at ambient room temperature during transport.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"In unexplained intellectual disability with seizures or altered movements, targeted PGAP1 sequencing is a rational diagnostic step. A confirmed molecular diagnosis allows precise recurrence-risk counseling, helps avoid unnecessary investigations, and may guide surveillance in affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient blood sample.
- FTA card not properly dried or stored in a damp condition.
- Mismatch between sample and patient identifiers.
- Incomplete clinical history or missing referral form.
- Expired or incorrect collection tube.
Understanding Your Results
No pathogenic variant detected
NGS did not identify a PGAP1 pathogenic or likely pathogenic variant. If clinical suspicion remains high, additional testing such as a broader intellectual disability panel or whole exome sequencing may be considered.
Pathogenic or likely pathogenic variants in two alleles
Molecular diagnosis of autosomal recessive PGAP1-related intellectual disability is supported. Confirm with clinical findings and discuss recurrence risk with a genetic counselor.
Pathogenic or likely pathogenic variant in one allele
This indicates carrier status when the clinical phenotype is not consistent. Offer targeted carrier testing to relevant family members.
Variant of uncertain significance (VUS)
A genetic variant was found, but its disease-causing role cannot be confirmed. Further segregation analysis and clinical correlation are recommended.
Consult a neurologist or clinical geneticist if a child or adult has unexplained intellectual disability, developmental regression, seizures, movement disorder, speech delay, or a positive family history of autosomal recessive intellectual disability.
Limitations
- ⚠This NGS test is limited to the PGAP1 gene and does not evaluate other genes associated with intellectual disability.
- ⚠Large structural rearrangements, deep intronic variants, or methylation abnormalities may not be detected by this targeted NGS test.
- ⚠A variant of uncertain significance may be reported; follow-up family studies may be needed for interpretation.
- ⚠A negative result does not completely rule out a genetic cause of the patient's symptoms.
Risks & Considerations
- ●Minor bruising, bleeding, or soreness at the venipuncture site.
- ●Dizziness or light-headedness during blood collection.
- ●Very small risk of infection at the needle insertion site.
Interfering Factors
- ●Sample contamination during collection or processing.
- ●Insufficient quantity or degraded quality of extracted DNA.
- ●Mutations in regions with low sequencing coverage may be missed.
- ●Rare primer or probe binding site changes may reduce assay sensitivity.
Compare With Similar Tests
| Test | PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test | PGAP1 NGS Test | Intellectual Disability NGS Panel | Chromosomal Microarray Analysis |
|---|---|---|---|---|
| Comparison | PGAP1 Gene Mental retardation, autosomal recessive type 42 NGS Genetic Test |
Frequently Asked Questions
What is PGAP1 gene mental retardation, autosomal recessive type 42?
What does autosomal recessive inheritance mean?
What are the common symptoms of PGAP1-related intellectual disability?
How is PGAP1 gene mental retardation diagnosed?
Why is NGS used for this test?
What is the cost of the PGAP1 NGS genetic test at DNA Labs India?
What sample do I need to provide?
Is fasting required for this test?
How long will the reports take?
What does a positive test result mean?
Do I need genetic counseling before the test?
Will I receive raw data files with my report?
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