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Molecular Diagnostics

A number of genetic disorders are known to result from the defects in a single gene. Although rare in comparison to infectious diseases, genetic disorders cause enormous misery as many of them do not have a permanent cure. In the absence of specific treatment, molecular diagnosis, carrier detection and prenatal diagnosis or pre-implantation genetic diagnosis for these disorders with appropriate genetic counseling is the best approach to prevent their recurrence/transmission to the future generations. We provide genetic diagnostic services using targeted testing approaches for close to 35-40 such monogenic disorders. The strategy is to identify the causal genetic defect in the proband, screen individuals in the family for carrier status, track inheritance of the genetic defect in the fetus by performing prenatal diagnosis on fetal samples (procured at appropriate stage of pregnancy through hospitals) and offer appropriate counseling to the family.The diseases analysed include Hemoglobinopathies, Musculopathies, Coagulopathies and Neuro-degenerative diseases among others.We also offer consultation out-patient services through expert Clinical and Medical Geneticists.

In addition, CCMB has also initiated Next Generation Sequencing (NGS) services for diagnosis of very rare genetic disorders using Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) approaches. The clinical and Medical Geneticists also help in appropriate clinical diagnosis and facilitate genetic testing and interpret the results better. These strategies provide an unparalleled power for detecting the causal defect in these disorders. With state of art NGS facility and experienced scientists and data analysts, we aim to solve and understand these medical mysteries in the long run, in addition to providing quality diagnostic services. Identification of the cause helps in initiation of any available therapies, augment multi-disciplinary care and enable the clinical geneticist to offer more precise prognostication. It also enables the family to choose appropriate reproductive strategies to prevent the recurrence of the disease as mentioned above.

Molecular Testing Details

Genetic testing

CCMB diagnostic laboratory is equipped with good infrastructure, latest technology & skilled professionals. We offer you wide range of testing services with ethical & sensitive reporting of results, detailed & well summarized reports with relevant literature. Our reports follow the latest ACMG guidelines* & are scrutinized at multiple levels, including Medical Geneticists, to ensure accuracy & safety of the genetic information. A comprehensive genetic counselling may be availed on the site, to understand the result & its relevance to your family. We do not stop here. Clinicians & patients can freely communicate & collaborate with us, on undiagnosed cases, devising new testing methods, innovative project proposals & genetic research.

Samples

Karyotype 3ml fresh blood sample in Heparin tube
[Note: To be transported to the lab immediately or at least with in 6 hours of collection]
Molecular testing 2-3ml blood sample in an sealed & labelled EDTA vacutainer
Prenatal Sample Chorionic villus sample containing visible villi in normal saline
  • 20 – 30ml amniotic fluid
  • 2-3ml Fetal cord blood sample
Tissue samples Umbilical cord tissue
Fresh frozen sample[FFS] / Formalin fixed paraffin embedded [FFPE]

Sample Storage & Transport

  • All samples must be clearly labelled, sealed & packed in a ‘leak-proof’ plastic bag/ ziplock.
  • Kindly mention names in capital letters only
  • Cold storage/ Ice packs are usually not required, if samples can reach us within 24 -48 hours
  • In case of minors, please include parental samples
  • All samples must be accompanied by relevant clinical details & previous reports, as this improves accuracy of genetic reports. Consent forms
  • Every sample must be accompanied by relevant case details & investigation reports. Kindly include information on previous genetic reports, if any. [ https://www.ccmb.res.in/services/Case-information_sheet.pdf ]
  • NGS [Next Generation Sequencing] based tests - Exome / Genome Sequencing, click on this link [ https://www.ccmb.res.in/services/consent_form_for_ngs.pdf ]
  • All non-NGS molecular tests (MLPA, Fragment analysis, TP-PCR & Sanger sequencing), click on this link [ https://www.ccmb.res.in/services/md_consent_form_092022.pdf ]
  • For every prenatal sample, kindly include Form F and Form G as specified by the Pre-Conception and Pre-Natal Diagnostic & Techniques (PCPNDT) Act, 1994 (Amended in 2003)
  • Previous Genetic report of proband must be included
  • All consent forms must be duly signed by patient/ Guardians (in case of minors)

Contact Details

  • Payment may be made via cash onsite/ demand draft/ online
  • The samples, test requisition & consent forms may be addressed to

Dr Giriraj Ratan Chandak/ Dr T Karthik Bharadwaj/ Dr Surya Balakrishnan
Molecular Diagnostics Division
CCMB Annexe II, Near Genpact road,
IDA Uppal, Habsiguda
Hyderabad - 500 039.
E-Mail: nidan@ccmb.res.in
Phone: 040-27195612

Payment

List of Genetic tests with cost & turnaround time
Revised from September 1, 2022

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