AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test
Short Name: AAGAB Gene Keratoderma NGS Test
Also known as: Punctate Palmoplantar Keratoderma Type 1A, PPKP1A, AAGAB Gene Mutation Test, Buschke-Fischer-Brauer Syndrome, Punctate Keratosis of Palms and Soles
AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at laboratory. 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 purpose of the AAGAB Gene Keratoderma NGS Genetic Test is to identify pathogenic mutations in the AAGAB gene that cause punctate palmoplantar keratoderma type 1A. This test is used to confirm a clinical diagnosis, differentiate PPKP1A from other forms of palmoplantar keratoderma, identify carriers within families, assist in genetic counseling and reproductive planning, guide treatment and management decisions, and enable cascade genetic testing of at-risk family members.
- Test Code
- 5047
- ICD Code
- Q82.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at laboratory
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Sequencing (Confirmation)
Sample Collection
No special preparation or fasting is required. A pre-test genetic counseling session is recommended to prepare a pedigree chart of family members affected with AAGAB Gene Keratoderma. Provide complete clinical history including onset of symptoms, family history, and any prior dermatological evaluations.
Method: Venipuncture / Finger Prick (FTA Card)
Laboratory Analysis
A trained phlebotomist will collect 3-5 mL of venous blood in an EDTA vacutainer. Alternatively, one drop of blood can be spotted on an FTA card. The procedure takes approximately 5-10 minutes.
Report Delivery
Apply gentle pressure with cotton at the puncture site for 2-3 minutes. The sample will be transported under appropriate cold chain conditions to the laboratory. Results will be available within 3 to 4 weeks via online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the AAGAB Gene Keratoderma NGS Genetic Test is to identify pathogenic mutations in the AAGAB gene that cause punctate palmoplantar keratoderma type 1A. This test is used to confirm a clinical diagnosis, differentiate PPKP1A from other forms of palmoplantar keratoderma, identify carriers within families, assist in genetic counseling and reproductive planning, guide treatment and management decisions, and enable cascade genetic testing of at-risk family members.
How to Prepare
- No fasting required before sample collection
- Carry a valid government-issued photo ID
- Bring any previous medical reports or dermatological consultation records
- Inform the phlebotomist about any recent blood transfusions or bone marrow transplants
- Ensure the sample is labeled correctly with patient name and date of birth
- Genetic counseling session is recommended prior to sample collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a dermatologist, I frequently encounter patients with palmoplantar keratoderma who have been misdiagnosed or undiagnosed for years. The AAGAB gene NGS test is invaluable for confirming punctate palmoplantar keratoderma type 1A, distinguishing it from other forms of keratoderma, and guiding appropriate management. Genetic confirmation also enables cascade testing of family members and informed genetic counseling for reproductive planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume (less than 2 mL)
- Improperly labeled or unlabeled sample
- Sample collected in incorrect container (non-EDTA)
- Sample received beyond stability window
- Contaminated sample
Understanding Your Results
Pathogenic Variant Detected
Confirms the diagnosis of punctate palmoplantar keratoderma type 1A. The identified mutation in the AAGAB gene is known to cause the condition. Genetic counseling and cascade testing of family members is recommended.
Likely Pathogenic Variant Detected
Strongly suggests a diagnosis of PPKP1A. The variant is predicted to be disease-causing based on available evidence. Clinical correlation and family studies are recommended for confirmation.
Variant of Uncertain Significance (VUS)
A genetic variant was detected but there is insufficient evidence to determine whether it is pathogenic or benign. Clinical correlation, family segregation studies, and periodic re-evaluation are recommended.
Likely Benign Variant Detected
A variant was detected but is unlikely to be the cause of the patient's condition. Clinical evaluation for other causes of keratoderma may be warranted.
No Pathogenic Variant Detected
No disease-causing mutations were identified in the AAGAB gene. This does not completely exclude a genetic etiology. Clinical evaluation for other types of palmoplantar keratoderma or alternative genetic testing may be considered.
Consult a dermatologist or clinical geneticist if you or your child develop small, round, raised bumps or thickened skin on the palms of the hands or soles of the feet, experience cracked and painful skin on the hands or feet, have difficulty walking or using the hands due to skin thickening, have a family history of palmoplantar keratoderma, or if symptoms are progressive and worsening over time.
Limitations
- ⚠May not detect large structural rearrangements, copy number variations, or deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may be identified requiring further evaluation
- ⚠Does not rule out other genetic or non-genetic causes of palmoplantar keratoderma
- ⚠Negative result does not completely exclude a genetic etiology if the causative mutation lies outside the sequenced regions
- ⚠Results must be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minimal risk associated with blood draw: minor bruising, slight pain at puncture site, or very rare infection
- ●Psychological impact of genetic diagnosis on patient and family members
- ●Potential identification of variants of uncertain significance requiring further evaluation
- ●Implications for family members who may be carriers or at risk
Interfering Factors
- ●Recent blood transfusion (within 4 weeks) may affect results
- ●Prior bone marrow or stem cell transplant
- ●Contaminated or degraded DNA sample
- ●Hemolyzed blood sample
- ●Concurrent use of immunosuppressive therapy may not affect genetic results but may confound clinical correlation
Compare With Similar Tests
| Test | AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test | Skin Biopsy | Sanger Sequencing | Whole Exome Sequencing (WES) | Clinical Examination Only |
|---|---|---|---|---|---|
| Comparison | AAGAB Gene Keratoderma, palmoplantar, punctate type 1A NGS Genetic Test | Skin biopsy examines tissue structure under microscopy and can confirm keratoderma but cannot identify the specific genetic mutation. NGS genetic testing provides molecular-level confirmation of the AAGAB gene mutation. | Sanger sequencing analyzes one gene at a time and is suitable for known familial mutations. NGS offers higher throughput, greater sensitivity, and can detect a broader range of variant types in the AAGAB gene. | WES analyzes all protein-coding genes and is useful when the causative gene is unknown. The AAGAB-specific NGS test is more targeted, cost-effective, and faster when PPKP1A is clinically suspected. | A clinical examination can identify keratoderma but cannot differentiate between subtypes. Genetic testing confirms the specific molecular diagnosis of PPKP1A and enables precise genetic counseling. |
Frequently Asked Questions
What is AAGAB Gene Keratoderma, palmoplantar, punctate type 1A?
What causes punctate palmoplantar keratoderma type 1A?
What are the symptoms of AAGAB Gene Keratoderma?
How is AAGAB Gene Keratoderma diagnosed?
What is NGS Genetic Testing and how does it work?
What sample is required for the AAGAB Gene NGS Genetic Test?
How long does it take to get the results of the AAGAB Gene NGS Genetic Test?
Is the AAGAB Gene NGS Genetic Test covered by insurance in India?
Is genetic counseling required before the AAGAB Gene NGS Genetic Test?
Can AAGAB Gene Keratoderma be treated or cured?
Is AAGAB Gene Keratoderma hereditary? Can it be passed to children?
Where can I get the AAGAB Gene NGS Genetic Test done in India?
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