Diagnostics

Home Our Services Diagnostics

Genetic testing is the best way to confirm a diagnosis in a patient with signs or symptoms suggestive of a genetic disease. Genetic testing refers to analysis of the gene itself, and it identifies the specific disease causing mutation. Genetic testing can also predict a person’s risk of developing a disease. Genetic testing (using blood cells – noninvasive method) is the best way to obtain exact genetic information for a conclusive Duchenne diagnosis. The field of genetic testing is rapidly evolving, and there are several types of testing that provide accurate genetic diagnosis. Testing for dystrophin gene deletions with the use of DNA-based technology is now the preferred diagnostic test for Duchenne Muscular Dystrophy when clinical signs and symptoms suggest the diagnosis. A muscle biopsy is needed, only if the DNA-based test is negative. A negative test occurs in about 30 percent of patients with Duchenne muscular dystrophy because some mutations in the dystrophin gene are not detected by PCR (Polymerase Chain Reaction) & MLPA (Multiplex Ligation Probe Amplification) techniques.

We at MDCRC have been offering genetic diagnosis for the past 6 years. The most striking feature is that at MDCRC our procedures are purely non-invasive. All our methods/techniques are as per Best Practice Guidelines.

1. Patients will be sent to us for genetic diagnosis based on their clinical diagnosis for DMD referred by a clinician.

2. 3-5 ml of blood is collected aseptically (as per Standard Operating Procedures-SOP) using EDTA vacutainer (purple cap) and labeled with appropriate details.

 

Dr.Lakshmi @ Best Practise Guidelines Meet for DMD, Nov 2008

 

Deletions Involving One Or More Exons Of The DMD Gene

1. ~65% of males with DMD have deletions

2. Most deletions occur in two hotspots clustered around the first 20 exons and around exons 45 to 55.

3. Testing is done by PCR for 30 exons (as per SOP)

4. Turn-around time for reports will be within 2 to 3 weeks

Duplications Of One Or More Exons Of The DMD Gene

1. ~6% of males with DMD have a duplication

2. Testing is done by MLPA exons (as per SOP)

3. Turn-around time for reports will be 2 months.

Other Mutations In The DMD Gene

1. ~30% of males with DMD have other mutations including small deletions or insertions, single base changes, or splicing mutations

2. Analysis is available on a research basis only

Carrier Testing For DMD Gene Using Gene Dosage Method

1. ~30% of females are carriers as per Indian & global data

2. Testing is done by MLPA

3. Turn-around time for reports will be 27 days.

+ Subscribe To MDCRC

Subscribe To MDCRC

WHY

Public Health to us at MDCRC is about the community at large. The health of the community at different levels and when seen through different perspectives becomes a subject which is complete, holistic and is a melting pot for a plethora of technical disciplines. At MDCRC we do align with a goal of working for community health by working on modular projects related to Women and Child health, disease prevention, Health informatics, Community building and its associated research, Water resources, Arts, Indic Sciences, Cultural issues which are relevant to the contemporary generation. The style which we adopt is to focus on totally neglected aspects and form a working model towards a better situation. The need for this approach is to bring back the glory of humanity in general and which percolates to a healthier India.

The disorders in current focus are Orphan disorders, meaning disorders whose numbers are said to be less (in the Western diaspora) which neither doesn’t majorly impact the community’s currently used health metric nor does it provide a base for extensive drug research and its production. This view is only true until the numbers are low and also the way we look at Public health in general. There had been no concerted efforts in the domain of Orphan disorders in India. Mission of ours then, was to bring the science, the services pertaining to a particular problem statement and which thereby gives rise to an evolution of a model. This forges a way of approaching Health from a community standpoint thereby offering an impactful experience to all stake-holders. This is where the core culture MDCRC comes in where we believe that in Public Health domain in particular, the science and the associated services need to reach mankind at large without a number bias or number crunching.

With a background in Biochemistry and Genetics, Dr. Lakshmi, in 2006 had started working on genetic disorders with specific emphasis on community building.

Offline Corporate Donations

  • Select Donation Type
  • Personal Details
  • Cheque Details

Donation Types

Please choose how you want to donate

Your Personal Details

Name

Email Id

Phone Number

State

Country

Your Cheque Details

Cheque Number

DD Number

Bank Name

Bank Branch Name

Offline Memorial Donations

  • Select Donation Type
  • Personal Details
  • Cheque Details

Donation Types

Please choose how you want to donate

Your Personal Details

Name

Email Id

Phone Number

State

Country

Your Cheque Details

Cheque Number

DD Number

Bank Name

Bank Branch Name

Offline Regular Donations

  • Select Donation Type
  • Personal Details
  • Cheque Details

Donation Types

Please choose how you want to donate

Your Personal Details

Name

Email Id

Phone Number

State

Country

Your Cheque Details

Cheque Number

DD Number

Bank Name

Bank Branch Name

Celebrate a Child's Birthday - Offline Donations

  • Select Donation Type
  • Personal Details
  • Cheque Details

Donation Types

Please choose how you want to donate

Your Personal Details

Name

Email Id

Phone Number

State

Country

Your Cheque Details

Cheque Number

DD Number

Bank Name

Bank Branch Name