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PRODUCTS |
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Leader In Genetic Counseling, Screening, Diagnosis And Management |
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| Genetic Counseling |
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| Genetic disorders or birth defects have varied causes and modes of inheritance. Genetic counseling assists affected and or at-risk individuals, for themselves and their affected and or at-risk individuals, for themselves and their progeny, to understand the nature of the genetic disorder, its transmission the tests available to them for diagnosis, management and reproductive options. The cost effectiveness is also discussed. Genetic disorders can be presented at birth or surface even in adulthood thus counseling may be needed for large spectrum of genetic disorders for individuals in any age group. |
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| Genetic Screening |
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| Genetic screening is voluntary offered to high risk population and identifies at risk individuals or families for a genetic disorder. Genetic screening screens unaffected individuals and should have a confirmatory test to follow. Four types of screening tests are available. Population screening - where the risk is high enough in population like Thalassemia in Mediterranean region, or in ethnic groups, Prenatal screening - to pick up high risk foetuses for newborn or adult disorders, Neonatal screening - in newborns for treatable metabolic disorders, and Asymptomatic screening - in individuals for cancer prediction like breast and colon. |
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| Cytogenetic Testing |
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Variety of chromosomal disorders can be studied by standard chromosome analysis (karyotyping). These tests can be offered prenatally or postnatally or on aborted specimen. |
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| KARYOTYPES IN HEMATOLOGICAL NEOPLASMS |
| AML M2 |
t (8;21) |
| AML M3 |
T (15;17) |
| AML, M4EO |
inv(16) |
| ALL |
t (4;11), t(9;22), t(8.14), t(12;21), t(1,19) & hyperdiploidy |
| CML |
t(9;22) |
| MPL |
Trisomy 8, Monosomy 7 |
| MDS |
5q; monosomy 5q, 7, 13q, 20 q |
| Non Hodgkin's |
t(8;14), t (11;14);t(14;18) |
| PV |
del(20q) |
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| Molecular Cytogenetics |
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Fluorescent In Situ Hybridization (FISH) technique is used to detect numerical as well as minor structural rearrangements on all the above tissues to confirm or identify a known genetic problem prior discussion with the lab is essential.
Currently it is available for fetal aneuploidy, micro-deletion syndromes and oncology mainly haematological malignancies. |
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| ANEUPLOIDY SCREEN |
13,18,21 and sex
chromosomes |
Prenatal and postnatal, sperm, oocytes
and blastomere |
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| ONCOLOGY |
| BCR / ABL |
In CML |
| PML / RARA |
In APML |
| 13q 14 region |
Retinoblastoma |
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| MICRODELETIONS |
| SRY PROBE |
Ambiguous genitalia & Sex Chromosomal abnormalities |
| Di George probe and other micro deletions |
CHD |
| Chromosome breakage syndrome |
Faaconi's Anemia, Bloom's Syndrome, Ataxia Talengectasia, Xeroderma Pigmentosa |
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| Stem Cell Cytogenetics |
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One of the confusing characteristics of stem cells is chromosomal instability associated with growth in culture. This may include whole chromosome gain or loss or deletion, duplication and or other variations. Long term implication of the same is not well known but many researches have said that the growth advantage of the cells may give rise to tumours and other possibility of chromosomal aberrations. These abnormalities can be studied through conventional G-banding or high-resolution banding karyotyping of the stem cell. The centre provides stem cell karyotyping to Regenerative Medical Services (Lonavala) who are one of the leading centre in Cell Therapy, Stem cell banking and therapy. |
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| Prenatal Diagnosis |
Our centre is one of the few centres providing all the prenatal diagnostic facilities under one roof. This includes, Pre test and Post test Genetic counseling, High Resolution Ultrasound, Prenatal Diagnostic Testing (Amniocentesis / Chorionic Villus Sampling – CVS, Fetal Blood Sampling).
The indications for prenatal diagnostic testing are Advanced maternal age (AMA), Abnormal maternal serum screening, Ultrasound anomalies, Previous child with a birth defect or genetic condition, Patient with genetic condition or career of a genetic condition, family history concerns, History of repeated missed abortions (Bad Obstetric History), Exposure to medication, infection, alcohol, drugs, chemicals or radiations in pregnancy. |
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ENQUIRY |
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*
Indicates Compulsory Fields
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