User
0
Your Cart Item

₹ 0.00

0 Test(s)

Reports Within

Parameters

Reports Within:

Parameter Include:

Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

60
Mins

Homes

1M
Happy

Customers

4.9
Google

Rating

Certified

Labs

What is the maximum days the report can be obtained for the test

The maximum days the report can be obtained for the test Progressive Myoclonic Epilepsy Gene Panel is 21 days.

What are the prerequisites for the test Progressive Myoclonic Epilepsy Gene Panel

  • Patient must have a clinical diagnosis of progressive myoclonic epilepsy
  • Physician referral
  • Completed test requisition form
  • Insurance pre-authorization if required

What are the measure values for the test Progressive Myoclonic Epilepsy Gene Panel

  • PRICKLE1 Gene
    • Variant 1: c.998C>T (p.Arg333Cys)
    • Variant 2: c.1154G>A (p.Gly385Arg)
  • EPM2A Gene
    • Variant 1: c.125C>T (p.Arg42Cys)
    • Variant 2: c.131-1G>T (splice donor variant)
  • SCARB2 Gene
    • Variant: c.1249G>A (p.Arg417Gln)

What does this test Progressive Myoclonic Epilepsy Gene Panel identify?

  1. Progressive Myoclonic Epilepsy Gene Panel identifies mutations in genes associated with progressive myoclonic epilepsy, a rare and severe form of epilepsy characterized by progressive neurological deterioration and myoclonic seizures.
  2. Genes included in the panel may vary but commonly include:
    • CSTB - responsible for Unverricht-Lundborg disease
    • SCARB2 - associated with action myoclonus-renal failure syndrome
    • PRICKLE1 - linked to myoclonic epilepsy and ataxia syndrome
    • and other genes such as GOSR2, NHLRC1, SAMD9L, etc.
  3. Identifying mutations in these genes can help in confirming a diagnosis of progressive myoclonic epilepsy, providing information for genetic counseling, and guiding treatment decisions.

Why is this test Progressive Myoclonic Epilepsy Gene Panel taken?

Progressive myoclonic epilepsy (PME) is a rare group of inherited epilepsies characterized by myoclonus (muscle jerks), progressive neurological deterioration, and seizures. PME can be caused by mutations in various genes that are involved in the regulation of neuronal function and development.

The Progressive Myoclonic Epilepsy Gene Panel test is taken to identify mutations in specific genes that are associated with PME. This test can help confirm a diagnosis of PME, guide treatment decisions, provide information about disease prognosis, and inform family members about their risk of inheriting the condition.

No FAQs available.

Customer Google Rating

2 week ago

Being the sole breadwinner, I was worried about my aging parents. UHL health plan provided the ideal coverage with additional benefits like fastest claim settlement .

Rahul Kashyap People

2 week ago

Choosing UHL HEALTH PLANS felt like an adventure. The website guided me smoothly and I was thrilled with the ease of comparison. Cheers UHL. The website guided me smoothly

Adarsh Kumar People

4 weeks ago

Having UHL heath plan which is so beneficial and the investment is also low. Service provided is quick and on time. Online renewals are made so simple through online portal service.

Kushagra People

2 week ago

I got the UHL Health Plan at a low cost, and the coverage is as high as promised. The service is excellent, and their staff is available 24/7 to assist with any inquiries.

Mahima Pandey People

2 week ago

I’m securing my future by investing in the UHL Health Plan and opting for their retirement health plans. In my opinion, it’s the best investment, as the policy covers 92% of my healthcare needs.

Ajeet People

1 week ago

The claims process is easy due to the fast service provided by their dedicated staff. Plus, it offers tax-saving benefits, which is another great advantage. I'm very satisfied with it.

Chitransh Trivedi People

1 week ago

I purchased the UHL Health Plan, opting for their term health coverage. The premiums are affordable, around Rs. 10K per year, making it a great option for my budget.

Tushar People

2 week ago

I have the UHL Health Plan for my family of four, and it has proven to be reliable with many benefits and great returns on investment. The policy coverage is around 90%.

Naina Verma People

2 week ago

I’m securing my future by investing in the UHL Health Plan and opting for their retirement health plans. In my opinion, it’s the best investment, as the policy covers 92% of my healthcare needs.

Anil People