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FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test

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FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test

Short Name: FAM111A NGS Genetic Test

Also known as: Kenny-Caffey syndrome with intellectual disability, Dwarfism-thrombocytopenia syndrome

FAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To detect pathogenic variants in the FAM111A gene associated with Kenny-Caffey syndrome type 2, confirming diagnosis, guiding management, and enabling carrier testing.

Test Code
4157
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 the laboratory
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Confirmation
Step 1

Sample Collection

No fasting is required. Inform your healthcare provider about any medications and supplements. For prenatal testing, discuss the risks and benefits with a genetic counselor beforehand.

Method: Blood draw or Dried Blood Spot (FTA Card)

Step 2

Laboratory Analysis

A trained phlebotomist will collect a venous blood sample into an EDTA tube or a drop of blood onto the FTA card. The procedure is quick and well-tolerated.

Step 3

Report Delivery

No special precautions are needed. Your sample will be transported to the laboratory under appropriate conditions. You can resume normal activities immediately.

Timeline: 3 to 4 weeks from sample receipt at the laboratory

Patient Instructions

1
Before the Test:There is no special preparation required. A genetic counseling session is recommended before the test to discuss the benefits, limitations, and possible outcomes.
2
During the Test:A simple blood sample or dried blood spot is taken. The process takes about 5 minutes.
3
After the Test:You will receive a detailed genetic report within 3 to 4 weeks. Your clinical geneticist or referring physician will explain the results and guide you on next steps.

About This Test

Who Should Get This Test

To detect pathogenic variants in the FAM111A gene associated with Kenny-Caffey syndrome type 2, confirming diagnosis, guiding management, and enabling carrier testing.

How to Prepare

  • Use EDTA-containing blood collection tube.
  • If using FTA card, spot blood directly onto the card and let it air dry completely before sealing.
  • Label the sample with patient name, UID, date, and time of collection.
  • Do not freeze whole blood; store at room temperature or refrigerate if processing is delayed.

Doctor's Notes

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

"Molecular confirmation through NGS is essential for accurate diagnosis and personalized care of individuals with Kenny-Caffey syndrome type 2."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL Blood or 1 drop Blood on FTA Card
ContainerEDTA Vacutainer or FTA Card
Collection MethodBlood draw or Dried Blood Spot (FTA Card)

Sample Stability

Blood (EDTA): 7 days at room temperature
Extracted DNA: 1 month at -20°C
FTA Card: 6 months at room temperature in a dry environment
Sample Rejection Criteria:
  • Sample received in heparin tube (inhibits PCR)
  • Clotted blood sample
  • Incorrectly labelled or missing patient identification
  • Contaminated sample
  • Sample not received in appropriate transport medium

Understanding Your Results

The report provides molecular findings, variant classification, and clinical correlation by a clinical geneticist. Results should be interpreted in the context of the patient's clinical presentation and family history.
📊

Confirms a molecular diagnosis of Kenny-Caffey syndrome type 2 when clinical features are consistent. Genetic counseling and family cascade testing are recommended.

📊

Indicates a DNA change with unclear impact. It does not establish a diagnosis. Additional family segregation studies or functional analyses may be needed.

📊

Absence of a detectable disease-causing variant in the FAM111A gene. This does not exclude the possibility of a non-coding variant, a large deletion, or another genetic cause.

⚠️ When to Consult a Doctor:

Consult a clinical geneticist or your referring physician to discuss the results and their implications for your health, treatment decisions, and reproductive planning.

Limitations

  • ⚠NGS does not reliably detect large genomic deletions or duplications impacting FAM111A; additional MLPA or array-CGH may be required.
  • ⚠Variants in non-coding regions not covered by NGS may not be identified.
  • ⚠Low-level somatic mosaicism may not be detected.
  • ⚠Variant interpretation may be uncertain; additional family studies are sometimes needed.

Risks & Considerations

  • ●Minimal discomfort at the venous blood collection site
  • ●Small risk of bruising or bleeding at the needle puncture site
  • ●No significant psychological risk unless results are not properly understood – genetic counseling minimizes this

Interfering Factors

  • ●Recent blood transfusion (can cause maternal contamination and affect DNA analysis)
  • ●Bone marrow transplantation (may alter germline results)
  • ●Poor DNA quality or quantity
  • ●Sample mix-up or mislabelling

Compare With Similar Tests

TestFAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test
ComparisonFAM111A Gene Kenny-Caffey syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is Kenny-Caffey syndrome type 2?
Kenny-Caffey syndrome type 2 is a rare autosomal dominant genetic disorder caused by mutations in the FAM111A gene. It is characterised by short stature, low calcium levels, low platelet count, delayed tooth eruption, and intellectual disability.
What is the FAM111A gene?
The FAM111A gene encodes a protein involved in cell division, DNA replication, and cellular growth. Mutations in this gene are associated with Kenny-Caffey syndrome type 2 and also with some forms of skeletal dysplasia.
What does the FAM111A NGS genetic test include?
The test includes next-generation sequencing of the FAM111A gene to detect pathogenic variants, interpretation of variants by a clinical geneticist, and a comprehensive report. It also includes a genetic counseling session when appropriate.
Who should get this test?
This test is indicated for individuals with clinical features suggestive of Kenny-Caffey syndrome type 2, family members of a person with a confirmed FAM111A mutation, and couples with a family history who are planning a pregnancy.
Do I need to fast before this test?
No, fasting is not required for this genetic test.
What sample type is required?
We accept whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. The test is simple and minimally invasive.
How long does it take to get the results?
The turnaround time is 3 to 4 weeks from the day the sample is received at our laboratory. Reports are delivered by email, online portal, and WhatsApp.
What is the cost of the FAM111A NGS genetic test at DNA Labs India?
The test is available at INR 20,000. This includes the sequencing, interpretation, and genetic counseling support.
Is home sample collection available?
Yes, we provide free home sample collection across India for online bookings. Even in cities such as Mumbai, Delhi, Bangalore, Hyderabad, Kolkata, Chennai, and many more.
What do the results mean?
A pathogenic variant confirms the clinical diagnosis and may guide treatment. A variant of uncertain significance means more studies are needed. A negative result does not entirely exclude the disease because other genetic causes may exist.
Can this test be used for prenatal testing?
Yes, when there is a known FAM111A pathogenic variant in a family, prenatal testing is possible by analysing samples obtained through chorionic villus sampling (CVS) or amniocentesis. This should be discussed with a clinical geneticist.
Does the test price include genetic counseling?
Yes, a genetic counseling session is included before/after testing to discuss the indication, genetic basis, and results of the test.
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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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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