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.
| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | Payment |
|---|---|---|---|---|---|---|---|
| CYTOGENETIC TESTING | |||||||
| 1 | CYTO 001 | FISH FOR ANEUPLOIDIES (from Uncultured Chorionic Villi and Amniotic Fluid) | Fluorescence In-Situ Hybridization | Chorionic Villus Sample/20-30mL Amniotic Fluid | 5000 | 1 Week | Pay Now |
| 2 | CYTO 002 | FISH FOR BCR-ABL TRANSLOCATIONS | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 3 | CYTO 003 | FISH FOR DIGEORGE SYNDROME (22q11.2 deletion syndrome) | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 4 | CYTO 004 | FISH FOR KALLMAN SYNDROME | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 5 | CYTO 005 | FISH FOR MILLER DIECKER SYNDROME | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 6 | CYTO 006 | FISH FOR PRADER-WILLI SYNDROME | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 7 | CYTO 007 | FISH FOR WILLIAM-BEUREN SYNDROME | Fluorescence In-Situ Hybridization | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 8 | CYTO 008 | KARYOTYPING FROM AMNIOTIC FLUID | AF Culture/GTG Banding | 20-30mL Amniotic Fluid | 5000 | 4 Weeks | Pay Now |
| 9 | CYTO 009 | KARYOTYPING FROM PERIPHERAL BLOOD | Lymphocyte culturing/ GTG Banding | 3mL Heparin blood | 2000 | 3 Weeks | Pay Now |
| 10 | CYTO 010 | SILVER NITRATE STAINING OF NUCLEOLUS ORGANIZER REGIONS | Lymphocyte culturing/Silver Nitrate staining | 3mL Heparin blood | 5000 | 3 Weeks | Pay Now |
| 11 | OGM 001 | OGM FOR CONSTITUTIONAL CHROMOSOMAL ABNORMALITIES | Optical Genome Mapping | 3-4mL EDTA blood | 53000 | 4 Weeks | Pay Now |
Cytogenetics is a branch of genetics that focuses on the study of chromosomes, the structures within cells that contain DNA. Cytogenetic testing combines aspects of cytology (the study of cells) and genetics to identify chromosomal abnormalities that contribute to genetic disorders. Chromosomal abnormalities can occur in several ways, including
- Numerical Abnormalities: Changes in the number of chromosomes, such as trisomy 21 (Down syndrome), where there is an extra copy of chromosome 21, or monosomy, where a chromosome is missing.
- Structural Abnormalities: Changes in the structure of chromosomes, which can involve deletions, duplications, inversions, or translocations of chromosome segments.
Tests available:
Karyotype
This technique involves staining and visualizing chromosomes under a microscope to identify numerical and large structural abnormalities.
Sample and transport requirements for Karyotyping:
- 3ml blood sample in a sealed, labelled Heparin (green top) vacutainer.
[Note: The sample should be stored and transported at 4°C and should reach us within 24-48 hours of collection]
Fluorescence In Situ Hybridization (FISH):
FISH uses fluorescent probes that bind to specific DNA sequences on chromosomes. This technique allows for the detection of smaller chromosomal abnormalities and gene rearrangements that are not visible with traditional karyotyping.
Sample and transport requirements for FISH:
- Chorionic villus sample (11-14 weeks of pregnancy) with visible villi in normal saline
- 20-30mL of Amniotic fluid (16-18 weeks of pregnancy)
- 3ml blood sample in a sealed, labelled Heparin (green top) vacutainer.
[Note: The sample should be stored and transported at 4°C and should reach us within24-48 hours of collection]
Optical Genome Mapping:
This advanced technique allows for the detection of structural variations in the genome with high resolution. It can identify complex rearrangements that other methods might miss.
Sample and transport requirements for Optical Genome Mapping:
- 3-6ml blood sample in a sealed, labelled EDTA (purple top) vacutainer.
[Note: The sample should be stored and transported at 4°C immediately after collection and should reach the lab within 48-72 hours of collection.]
Several genetic disorders are known to result from the defects in a single gene. Using various molecular biology tools, we provide genetic diagnostic services to identify such variations that are responsible for the disease in the patient. Targeted testing approaches are available for close to 50 such monogenic disorders. In addition, CCMB also offers Next Generation Sequencing (NGS) services for diagnosis of other rare genetic disorders using Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) approaches.
| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| HAEMOGLOBINOPATHIES | |||||||
| 1 | MD 003 | BETA-THALASSEMIA-619 bps Deletion Analysis | PCR/AGE | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 2 | MD 004 | BETA-THALASSEMIA-Any single mutation testing | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 3 | MD 005 | BETA-THALASSEMIA-Common Mutations Panel | Sanger Sequencing | 3mL EDTA blood | 3000 | 2 Weeks | Pay Now |
| 4 | MD 006 | BETA-THALASSEMIA-Complete Gene Sequencing | Sanger Sequencing | 3mL EDTA blood | 4000 | 3 Weeks | Pay Now |
| 5 | MD 007 | HAEMOGLOBIN-D DISEASE-Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 6 | MD 008 | HAEMOGLOBIN-E DISEASE-Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 7 | MD 009 | SICKLE CELL ANAEMIA-Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| NEUROMUSCULAR DISEASES | |||||||
| 1 | MD 010 | BECKER MUSCULAR DYSTROPHY-Mutation Analysis /Carrier Screening | MLPA | 3mL EDTA blood | 4000 | 2 Weeks | Pay Now |
| 2 | MD 011 | DUCHENNE MUSCULAR DYSTROPHY-Mutation Analysis /Carrier Screening | MLPA | 3mL EDTA blood | 4000 | 2 Weeks | Pay Now |
| 3 | OGM 002 | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY TYPE-1 (D4Z4-ARRAY CONTRACTION TESTING) | Optical Genome Mapping | 3mL EDTA blood | 46500 | 4 Weeks | Pay Now |
| 3 | MD 012 | HEREDITARY SENSORY AND MOTOR NEUROPATHY (CMT1A) -Mutation Analysis | MLPA | 3mL EDTA blood | 4000 | 2 Weeks | Pay Now |
| 5 | MD 013 | LGMD TYPE 2A-CAPN3-Mutation Analysis [2051-1G>T, 2338G>C] | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 6 | MD 014 | MYOTONIC DYSTROPHY TYPE 1 -Mutation Analysis | TP-PCR | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 7 | MD 015 | OCULOPHARYNGEAL MUSCULAR DYSTROPHY-Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 3000 | 2 Weeks | Pay Now |
| 8 | MD 016 | SPINAL AND BULBAR MUSCULAR ATROPHY-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 9 | MD 017 | SPINAL MUSCULAR ATROPHY- Mutation Analysis /Carrier Screening | MLPA | 3mL EDTA blood | 3300 | 2 Weeks | Pay Now |
| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| HEREDITARY ATAXIAS AND OTHER NEURODEGENERATIVE DISORDERS | |||||||
| 1 | MD 018 | DENTATORUBROPALLIDOLUYSIAN ATROPHY-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 2 | MD 019 | FRIEDREICH ATAXIA-Mutation Analysis | TP-PCR | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 3 | MD 020 | HUNTINGTON DISEASE-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 4 | MD 021 | SPINOCEREBELLAR ATAXIA-any one type | Fragment Analysis | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 5 | MD 022 | SPINOCEREBELLAR ATAXIA TYPES-1,2,3-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 5500 | 2 Weeks | Pay Now |
| 6 | MD 023 | SPINOCEREBELLAR ATAXIA TYPES-1,2,3,6-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 7500 | 2 Weeks | Pay Now |
| 7 | MD 024 | SPINOCEREBELLAR ATAXIA TYPES-7,17-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 5000 | 2 Weeks | Pay Now |
| 8 | MD 025 | SPINOCEREBELLAR ATAXIA TYPES-1,2,3,6,12-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 9500 | 3 Weeks | Pay Now |
| 9 | MD 026 | SPINOCEREBELLAR ATAXIA TYPES-1,2,3,6,7,12,17-Mutation Analysis | Fragment Analysis | 3mL EDTA blood | 13500 | 3 Weeks | Pay Now |
DEVELOPMENTAL DELAY / DYSMORPHISM & INTELLECTUAL DISABILITY SYNDROMES
| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| DEVELOPMENTAL DELAY / DYSMORPHISM & INTELLECTUAL DISABILITY SYNDROMES | |||||||
| 1 | MD 027 | FRAGILE X SYNDROME- Mutation Analysis/Carrier Screening | TP-PCR | 3mL EDTA blood | 6000 | 2 Weeks | Pay Now |
| 2 | MD 028 | MICRODELETIONS/MICRODUPLICATIONS SYNDROMES-Mutation Analysis [1p36 DELETION SYNDROME, 2p16.1-P15 MICRODELETION SYNDROME, 2q23.1 MICRODELETION/ MICRODUPLICATION SYNDROME, GLASS SYNDROME, 3q29 MICRODELETION/MICRO DUPLICATION SYNDROME, WOLF-HIRSCHHORN SYNDROME, CRI-DU-CHAT SYNDROME, SOTOS SYNDROME, WILLAMS-BEUREN SYNDROME, WILLAMS-BEUREN DUPLICATION SYNDROME, LANGER-GIEDION SYNDROME, 9q22.3 MICRODELETION SYNDROME, DI-GEORGE SYNDROME-2, PRADER-WILLI SYNDROME, ANGLEMAN SYNDROME, WITTEVEEN-KOLK SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MILLER-DIEKER SYNDROME/ LISSENCEPHALY-1, SMITH-MAGENIS SYNDROME (POTOCKI-LUPSKI SYNDROME), NF1 MICRODELETION SYNDROME, KOOLEN-DE VRIES SYNDROME, 17q21.31 MICRODUPLICATION SYNDROME, DI-GEORGE SYNDROME, 22q11.2 MICRODUPLICATION SYNDROME, DISTAL 22q11.2 DELETION SYNDROME, PHELAN-MCDERMID SYNDROME, RETT SYNDROME(MECP2 DUPLICATION SYNDROME)] | MLPA | 3mL EDTA blood | 3700 | 2 Weeks | Pay Now |
| 3 | MD 029 | ANGELMAN SYNDROME/ PRADER-WILLI | MS-MLPA | 3mL EDTA blood | 7000 | 2 Weeks | Pay Now |
| 4 | MD 030 | BECKWITH-WIEDEMANN/SILVER-RUSSELL SYNDROME | MS-MLPA | 3mL EDTA blood | 7000 | 2 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| CYSTIC FIBROSIS/HEREDITARY PANCREATITIS PANEL | |||||||
| 1 | MD 031 | CHRONIC PANCREATITIS PANEL [SPINK1 (N34S); PRSS1 (N29I, R122H)] | Sanger Sequencing | 3mL EDTA blood | 3000 | 2 Weeks | Pay Now |
| 2 | MD 032 | CFTR-Any single mutation | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 3 | MD 033 | CFTR-4 Mutation Panel [DF508, G542X, G551D, R553X] | Sanger Sequencing | 3mL EDTA blood | 2800 | 2 Weeks | Pay Now |
| 4 | MD 034 | CFTR-5T/7T/9T Polymorphism | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 5 | MD 035 | CFTR-36 Mutation Panel | Allele-Specific PCR/Fragment Analysis | 3mL EDTA blood | 7500 | 2 Weeks | Pay Now |
| 6 | MD 036 | SPINK1-N34S Mutation analysis | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| MITOCHONDRIOPATHIES | |||||||
| 1 | MD 037 | LEBER HEREDITARY OPTIC NEUROPATHY- Any single mutation | Sanger Sequencing | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 2 | MD 038 | LEBER HEREDITARY OPTIC NEUROPATHY [G3460A, G11778A, T14484C] -Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 3500 | 2 Weeks | Pay Now |
| 3 | MD 039 | LEIGH SYNDROME-Any single mutation | Sanger Sequencing | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 4 | MD 040 | LEIGH SYNDROME [T12706C, A13084T, G13513A] -Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 3500 | 2 Weeks | Pay Now |
| 5 | MD 041 | MELAS [A3243G]- Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2000 | 1 Week | Pay Now |
| 6 | MD 042 | MITOCHONDRIAL GENOME SEQUENCING | Next Generation Sequencing | 3mL EDTA blood | 7500 | 6 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| COAGULOPATHIES | |||||||
| 1 | MD 043 | FACTOR II (PROTHROMBIN)- Mutation Analysis [G20210A] | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 2 | MD 044 | FACTOR V LEIDEN MUTATION ANALYSIS | Sanger Sequencing | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 3 | MD 045 | HAEMOPHILIA A- Factor VIII-Intron 1 inversion analysis | PCR/AGE | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 4 | MD 046 | HAEMOPHILIA A- Factor VIII-Intron 22 inversion analysis | PCR/AGE | 3mL EDTA blood | 2000 | 2 Weeks | Pay Now |
| 5 | MD 047 | HAEMOPHILIA A- Factor VIII-Introns 1 and 22 inversion analysis | PCR/AGE | 3mL EDTA blood | 4000 | 2 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| HEREDITARY METABOLIC DISORDERS | |||||||
| 1 | MD 048 | BIOTIDINASE DEFICIENCY-BTD Mutation analysis | Sanger Sequencing | 3mL EDTA blood | 5000 | 2 Weeks | Pay Now |
| 2 | MD 049 | HEREDITARY HAEMOCHROMATOSIS-H63D, C282Y | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 3 | MD 050 | MTHFR-A1298C, C677T Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| MISCELLANEOUS | |||||||
| 1 | MD 051 | ACHONDROPLASIA-FGFR3 Mutation Analysis [G1138A, G1138C] | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 2 | MD 052 | CADASIL-NOTCH3 Mutation Analysis [C421T] | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 3 | MD 053 | CONGENITAL ADRENAL HYPERPLASIA (CAH) -CYP21A1 Deletion analysis | MLPA | 3mL EDTA blood | 4000 | 3 Weeks | Pay Now |
| 4 | MD 054 | GILBERT SYNDROME- UGT1A1 Promoter Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 5 | MD 055 | HAEMOLYTIC UREMIC SYNDROME (HUS)-CNV analysis in the CFH region | MLPA | 3mL EDTA blood | 4000 | 3 Weeks | Pay Now |
| 6 | MD 056 | HEREDITARY HAEMOCHROMATOSIS-H63D, C282Y | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 7 | MD 057 | JAK2-V617F Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
| 8 | MD 058 | NON-SYNDROMIC HEARING LOSS-GJB2 Mutation Analysis | Sanger Sequencing | 3mL EDTA blood | 2500 | 2 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| PRENATAL DIAGNOSIS | |||||||
| 1 | MD 059 | MATERNAL CELL CONTAMINATION (MCC)-by STR Analysis | Fragment Analysis | 3mL EDTA blood | 2500 | 1 Week | Pay Now |
| 2 | MD 060 | PRENATAL DIAGNOSIS WITH MCC (In CVS/AF) | Based on Proband’s diagnosis | Chorionic Villus Sample/20-30mL Amniotic Fluid | 8500 | 1 Week | Pay Now |
| 3 | MD 061 | PRENATAL DIAGNOSIS WITHOUT MCC (In CVS/AF) | Based on Proband’s diagnosis | 5500 | 1 Week | Pay Now | |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| NEXT GENERATION SEQUENCING | |||||||
| 1 | MD 062 | MITOCHONDRIAL GENOME SEQUENCING | Next Generation Sequencing | 3mL EDTA blood | 7500 | 6 Weeks | Pay Now |
| 2 | MD 063 | WHOLE EXOME SEQUENCING-Analysis | Next Generation Sequencing | 3mL EDTA blood | 16500 | 6 Weeks | Pay Now |
| 3 | MD 064 | WHOLE EXOME SEQUENCING-Raw Data Only | Next Generation Sequencing | 3mL EDTA blood | 15000 | 3 Weeks | Pay Now |
| 4 | MD 065 | WHOLE GENOME SEQUENCING- Analysis | Next Generation Sequencing | 3mL EDTA blood | 70000 | 6 Weeks | Pay Now |
| 5 | MD 066 | WHOLE GENOME SEQUENCING- Raw Data Only | Next Generation Sequencing | 3mL EDTA blood | 60000 | 4 Weeks | Pay Now |
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| SL.NO | TEST CODE | TEST NAME | TECHNIQUE USED | SAMPLE TYPE | PRICE (In rupees) | TAT | PAYMENT |
|---|---|---|---|---|---|---|---|
| TARGETED MUTATION ANALYSIS-for new variants | |||||||
| 1 | MD 067 | TARGETED MUTATION ANALYSIS + PRIMER DESIGNING (1 VARIANT IN A PERSON) | Sanger Sequencing | 3mL EDTA blood | 5500 | 4 Weeks | Pay Now |
| 2 | MD 068 | TARGETED MUTATION ANALYSIS + PRIMER DESIGNING (1 VARIANT IN EVERY ADDITIONAL PERSON) | Sanger Sequencing | 3mL EDTA blood | 2500 | 4 Weeks | Pay Now |
For Prenatal testing:
- Chorionic villus sample (11-14 weeks of pregnancy) with visible villi in normal saline
- 20-30mL of Amniotic fluid (16-18 weeks of pregnancy)
- [Note: The sample should be stored and transported at 4°C immediately after collection and should reach the lab within 24 – 48 hours of collection.]
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.
Contact:
Name
+91 40 27160222-31
director[at]ccmb[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.