MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test
Short Name: MRAP Gene FGD Type 2 Test
Also known as: MRAP Gene Sequencing Test, Familial Glucocorticoid Deficiency Type 2 Genetic Test, FGD2 NGS Test, MRAP Mutation Analysis, ACTH Resistance Genetic Test
MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis 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 of sample receipt at the laboratory. Results are delivered via the DNA Labs India online portal, registered email, and WhatsApp.. 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 test is to confirm a molecular diagnosis of familial glucocorticoid deficiency type 2 (FGD2) by identifying pathogenic or likely pathogenic variants in the MRAP gene. It enables definitive diagnosis in symptomatic patients, guides appropriate cortisol replacement therapy, facilitates carrier identification in family members, and supports informed genetic counselling and reproductive planning. The test also helps differentiate FGD2 from other forms of primary adrenal insufficiency, ensuring accurate clinical management.
- Test Code
- 2006
- CPT Code
- 81479
- ICD Code
- E27.4
- 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 of sample receipt at the laboratory. Results are delivered via the DNA Labs India online portal, registered email, and WhatsApp.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if required), Bioinformatics Pipeline Analysis
Sample Collection
A pre-test genetic counselling session is mandatory to obtain informed consent, review clinical history, and draw a pedigree chart of family members. No fasting is required. Provide complete clinical and family history of adrenal insufficiency or related endocrine disorders.
Method: Venipuncture or Finger-prick (FTA Card)
Laboratory Analysis
A peripheral venous blood sample (3–5 mL in EDTA tube) is collected via standard venipuncture. Alternatively, one drop of blood on an FTA card or pre-extracted DNA may be submitted. The procedure is similar to a routine blood draw and takes approximately 5 minutes.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India molecular genetics laboratory. Pressure should be applied to the venipuncture site for 3–5 minutes. Normal activities can be resumed immediately after sample collection.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Results are delivered via the DNA Labs India online portal, registered email, and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of this test is to confirm a molecular diagnosis of familial glucocorticoid deficiency type 2 (FGD2) by identifying pathogenic or likely pathogenic variants in the MRAP gene. It enables definitive diagnosis in symptomatic patients, guides appropriate cortisol replacement therapy, facilitates carrier identification in family members, and supports informed genetic counselling and reproductive planning. The test also helps differentiate FGD2 from other forms of primary adrenal insufficiency, ensuring accurate clinical management.
How to Prepare
- No fasting or special preparation is required before sample collection
- Provide signed informed consent and complete clinical/family history questionnaire
- Blood should be collected in an EDTA (Lavender Top) vacutainer tube
- If using an FTA card, allow the blood spot to air-dry completely before packaging
- Ensure proper labeling of the sample with patient name, date of birth, and date of collection
- Store and transport the sample at ambient room temperature (15–30°C)
- If blood collection is not feasible, pre-extracted DNA (minimum 20 µg, A260/A280 ratio 1.8–2.0) may be submitted
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MRAP gene mutations cause familial glucocorticoid deficiency type 2, a rare autosomal recessive disorder of ACTH resistance. Genetic confirmation through NGS is essential for accurate diagnosis, family screening, and guiding cortisol replacement therapy. Early identification in children prevents life-threatening adrenal crises. Carrier testing in parents and siblings enables informed reproductive counselling and early intervention in at-risk family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Samples received without proper labeling or patient identification
- Clotted blood or hemolyzed samples in EDTA tubes
- Samples collected in incorrect anticoagulant (e.g., heparin instead of EDTA)
- Insufficient sample volume or quantity of DNA
- Samples without signed informed consent or completed requisition form
Understanding Your Results
No Pathogenic Variants Detected
No disease-causing mutations were identified in the MRAP gene. This reduces the likelihood of FGD2 due to MRAP mutations but does not exclude glucocorticoid deficiency caused by mutations in other genes or non-genetic factors. Clinical correlation and further investigation may be warranted.
Action: Consult with endocrinologist and clinical geneticist for further evaluation if symptoms persist.
Pathogenic or Likely Pathogenic Variant(s) Detected
One or two pathogenic or likely pathogenic variants were identified in the MRAP gene. Homozygous or compound heterozygous pathogenic variants confirm a diagnosis of familial glucocorticoid deficiency type 2. A single heterozygous pathogenic variant indicates carrier status.
Action: Initiate cortisol replacement therapy under endocrinologist supervision. Offer cascade testing to family members. Provide genetic counselling for reproductive planning.
Variant of Uncertain Significance (VUS)
A variant was identified that cannot be definitively classified as pathogenic or benign based on current evidence. This result alone is not sufficient for clinical diagnosis.
Action: Clinical correlation with hormonal and clinical findings is essential. Family segregation studies and periodic reanalysis of the variant as new evidence becomes available are recommended.
Carrier Identified (Heterozygous Pathogenic Variant)
A single pathogenic variant was detected, indicating the individual is a carrier of FGD2. Carriers are typically asymptomatic but can pass the variant to offspring.
Action: Genetic counselling for reproductive risk assessment. Partner testing recommended if planning children.
Consult a clinical geneticist or endocrinologist if your test reveals a pathogenic or likely pathogenic MRAP variant, a variant of uncertain significance (VUS), or if clinical symptoms persist despite a negative result. Urgent medical consultation is required if the patient is experiencing an adrenal crisis, including severe hypotension, hypoglycemia, altered consciousness, or shock. Carrier individuals planning a family should also seek genetic counselling to understand recurrence risks.
Limitations
- ⚠This test targets the MRAP gene only and does not screen other genes associated with adrenal insufficiency (e.g., MC2R, STAR, CYP11A1)
- ⚠Deep intronic variants and regulatory region mutations outside covered regions may not be detected
- ⚠Variants of uncertain significance (VUS) may be identified and may require further evaluation or family studies
- ⚠This test does not detect trinucleotide repeat expansions or large complex rearrangements with certainty
- ⚠A negative result does not completely exclude glucocorticoid deficiency caused by other genetic or non-genetic factors
Risks & Considerations
- ●Minimal risk associated with blood collection: slight pain or bruising at the venipuncture site
- ●Possibility of identifying variants of uncertain significance (VUS) which may cause anxiety
- ●Potential for incidental findings related to other genetic conditions (if reported under ACMG secondary findings guidelines)
- ●Emotional or psychological impact of a positive diagnosis; genetic counselling is strongly recommended
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Contamination during sample collection or processing
- ●Presence of large structural rearrangements not detectable by standard NGS panels
Compare With Similar Tests
| Test | MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test | Serum Cortisol and ACTH Levels | ACTH Stimulation Test | MC2R Gene Sequencing | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | MRAP Gene Glucocorticoid deficiency type 2 NGS Genetic Test | Hormonal assays detect biochemical abnormalities but cannot identify the specific genetic cause. The MRAP NGS test provides definitive molecular diagnosis and identifies carrier status. | The ACTH stimulation test evaluates adrenal cortex function and confirms cortisol deficiency but does not distinguish between different genetic causes. MRAP gene testing identifies the specific underlying mutation. | MC2R gene testing screens for mutations in the ACTH receptor itself, while MRAP testing screens for mutations in its accessory protein. Both cause familial glucocorticoid deficiency but are genetically distinct. Multi-gene panels may be considered for comprehensive evaluation. | WES analyzes all protein-coding genes and may identify MRAP variants along with variants in other genes. The targeted MRAP NGS test is more cost-effective and faster when FGD2 is clinically suspected. |
Frequently Asked Questions
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