CSIR - Centre for Cellular & Molecular Biology
The Innovation Engine of India
Genetic Testing
Genetic diseases are disorders caused by abnormalities in an individual’s DNA. These abnormalities can be due to mutations in a single gene (monogenic disorders), multiple genes (polygenic disorders), or changes in the number or structure of chromosomes (chromosomal disorders). Genetic diseases can be inherited from one or both parents (hereditary/familial diseases) or can occur spontaneously during an individual’s development (de novo mutations).
Examples of genetic diseases include cystic fibrosis, sickle cell anemia, Huntington’s disease, Down syndrome, and various types of cancers that have a genetic component. These conditions can affect different systems of the body, leading to a wide range of symptoms and health issues.
Only one link for payment as below:
payment link :
https://onlinesbi.sbi.bank.in/sbicollect/icollecthomehtm?corpID=378316
Only one link for payment as below
payment link :
https://onlinesbi.sbi.bank.in/sbicollect/icollecthomehtm?corpID=378316
Genetic Counselling is a crucial service that helps individuals and families navigate the complex and often challenging landscape of genetic disorders. CCMB offers Genetic Counselling (both pre-test and post-test counselling) to help determine the genetic nature of a clinical condition based on available clinical history and pedigree analysis. By providing risk assessment and appropriate genetic information, we help the patients make informed decisions about their health and the health of their families.
Note: To avail of genetic testing services at CGDC, please make an appointment in advance by calling our landline number 040-27195612 (Monday to Friday between 10 am and 6 pm). Symptomatic individuals in the family should be present during the meeting with the Clinical Geneticist for evaluation. Please bring all available medical records to the visit.
Samples
Sample Storage & Transport
ii) Optical Genome Mapping
Sample collection and transport
| 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
|
| 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 samples must be sent along with consent forms duly signed by patient/ guardians (in case of minors) and case proforma with clinical details.
ii) Optical Genome Mapping
- 3-6ml of blood in EDTA tubes (purple cap).
- For best results collected samples should be shipped same day at 4oC with ice pack in the box.
- Do not freeze the sample*
- Sample should reach the lab within 48-72 hours of collection on working days.
- Payment may be made via cash onsite/ demand draft “IN FAVOUR OF DIRECTOR CCMB, PAYABLE AT HYDERABAD”
- Online payment may can be made by clicking on the link below
-
- Click on the options GOVT Department & then Name of the government Department- Centre for Cellular and Molecular Biology & State as Telangana
- Then Choose the drop down box & choose the option ‘TSP101 MOLECULAR DIAGNOSTICS’
- Follow the below link for the type of test & testing charges
Contact:
Name
Dr T Karthik Bharadwaj / Dr T Jayakrishna
CCMB Genetic Diagnostic Centre,
CCMB Annexe II, Near Genpact road, IDA Uppal,
Habsiguda, Hyderabad – 500 039.
040 27195612/5524
nidan[dot]ccmb[at]csir[dot]res[dot]in
Instructions for sending samples for Genetic Testing
The following requirements are essential to ensure timely testing and reporting of samples received at CCMB.
- Consent forms should be duly filled and signed by the patient/ by parents are legal guardians in case of minors.
- Relevant test reports (genetic test reports of other affected members of the family (if available) or other non-genetic testing reports that have raised clinical suspicio
Every prenatal sample should be accompanied by duly filled and signed Form F & G in addition to the above-mentioned documents as per the Pre-Conception and Pre-Natal Diagnostics and Techniques (PC-PNDT) Act of 1994 (amended in 2003).
Frequently asked questions
Genetic testing involves analyzing DNA, RNA, or proteins to identify changes or mutations that could lead to genetic disorders. It helps diagnose conditions, assess risk, and guide treatment decisions.
Genetic testing can provide valuable information for diagnosing genetic disorders, assessing risk for certain diseases, making informed reproductive choices, and tailoring medical treatments to your genetic profile.
Genetic testing typically involves a sample of blood, saliva, or tissue. The DNA is then extracted and analyzed using various techniques such as PCR, DNA sequencing, etc., to detect genetic mutations.
- Diagnostic Testing: Identifies specific genetic disorders in symptomatic individuals.
- Predictive and Pre-symptomatic Testing: Assesses the risk of developing genetic conditions before symptoms appear.
- Carrier Testing: Determines if a person carries a gene mutation that could be passed to their children.
- Prenatal Testing: Detects genetic abnormalities in a fetus.
- Newborn Screening: Identifies genetic disorders early in life for prompt intervention.
- Pharmacogenomic Testing: Predicts an individual’s response to certain medications based on their genetic makeup.
The accuracy of genetic testing depends on the type of test and the condition being tested for. Most genetic tests have high sensitivity and specificity, but no test is 100% accurate. False positives and false negatives can occur.
- Early and accurate diagnosis of genetic conditions
- Personalized treatment plans
- Informed decisions about family planning and pregnancy
- Identification of at-risk family members
- Better understanding of disease risk and prevention strategies
- Emotional and psychological impact of test results
- Possible false positives or false negatives
- Limited predictive power for multifactorial diseases
- Privacy and confidentiality concerns
- Potential for genetic discrimination in employment or insurance
The turnaround time for genetic test results varies. Some tests may provide results within a few days, while others, especially those involving comprehensive sequencing, may take several weeks.
- Individuals with a family history of genetic disorders
- Couples planning to have children
- Pregnant women or those planning a pregnancy
- Individuals with symptoms of a genetic condition
- Cancer patients for targeted treatment decisions
- Anyone interested in personalized medicine
Genetic test results are often complex and should be interpreted by a healthcare professional, such as a genetic counselor or medical geneticist. They can explain the implications of the results, including risks, management options, and recommendations for family members.
Genetic test results for inherited conditions typically do not change over time. However, new research and advancements in genetic testing may lead to reclassification of variants or updated interpretations of previous results.
? Insurance coverage for genetic testing varies by provider and policy. Some tests are covered if they are deemed medically necessary. It is important to check with your insurance company regarding specific coverage details.
Genetic counseling is a process that provides information, support, and guidance on genetic conditions and testing. It helps individuals understand the implications of genetic testing, make informed decisions, and cope with the emotional impact of test results.
Ethical considerations include informed consent, privacy and confidentiality, potential for discrimination, and the psychological impact of knowing one’s genetic risk. It is important to discuss these issues with a healthcare provider or genetic counselor.
No, genetic testing cannot predict all diseases. While it can identify mutations associated with specific genetic disorders, many diseases are influenced by multiple genetic and environmental factors, making prediction complex.
If your results are positive for a genetic mutation, consult with your healthcare provider or genetic counselor. They can provide information on the condition, discuss potential treatment or management options, and offer support in coping with the results.
Alternatives to genetic testing include detailed family medical history assessments, clinical evaluations, and imaging or biochemical tests. These methods can provide valuable information but may not offer the same level of specificity as genetic testing.