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Services
Chromosomal
Diagnosis
Chromosomal abnormalities are major cause of human suffering, which are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive wastage, infertility neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counselling and management of affected individuals and families. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal foetuses. Such couples are counselled regarding continuation of pregnancy.
Our state-of-the-art laboratory offers cytogenetic services in a variety of samples with the application of differential chromosome banding techniques and automated image analysis system for karyotyping, FISH (fluorescence in situ hybridization) as well as Molecular Genetic tests like PCR (Polymerase Chain Reaction) for Y chromosome microdeletions.
| Indications |
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Dysmorphic features/Congenital malformations
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Syndromic and non-syndromic birth defects
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Trisomy/monosomy syndromes (eg. Down syndrome, Edwards syndrome, Patau syndrome, Klinefelter syndrome, Turner syndrome)
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Delayed developmental milestones/growth retardation
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Overgrowth syndromes
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Abnormal developmental of the genitalia/ambiguous genitalia
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Delayed puberty/lack or late onset of secondary sexual characters
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Infertility
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Mental retardation
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Recurrent abortions
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Primary amenorrhoea
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Poor gonadal development/atropic gonads
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Premature menopause/premature ovarian failure
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Chromosome instability syndromes
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Contiguous gene syndromes
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Haematological malignancies
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Solid tumors
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Prenatal testing in case where there is
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| Nature of sample and requirements |
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From
peripheral blood
2-3
ml heparinised blood (green cap
vacutainers)
From
bone/marrow leukemic blood
2-3 ml heparinised bone marrow/peripheral blood (peripheral blood is desirable only if blast cells are present)
From
prenatal samples
Products of conception
Properly washed in normal saline
Amniotic fluid
15-20 ml amniotic fluid in sterile centrifuge tubes
Fetal cord blood
1-2 ml heparinised fetal cord blood
Fetal tissue sampling should be done under sterile conditions and samples should be transported in sterile tissue culture media. CYTOGENETIC ANALYSIS IS NOT POSSIBLE IN FORMALIN FIXED SAMPLES.
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| Chromosome diagnostic services-
charges |
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Cost
of chromosome-based diagnostic
services/sample |
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Peripheral
blood |
: |
Rs
2,210/- |
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Fetal
cord blood |
: |
Rs
3,310/- |
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Other prenatal samples |
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Rs
6,620/- |
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Fluorescence based chromosome analysis |
- Conventional probes
(whole chromosome paint)
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Rs 7,170/- |
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*Approximately Rs 7,000/- |
- Multicolor, aneuvysion, etc
|
: |
Rs 16,660/- |
Y chromosome microdeletion analysis
(AZFa, AZFb and AZFc) |
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Rs 4,420/- |
Y chromosome microdeletion analysis
(AZFa, AZFb and AZFc) and karyotype |
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Rs 6,630 |
[*Charges
of the tests for respective Locus Specific
Probes vary according to the cost of the
probes. Payment of Rs 7,000/- can be made
initially and the balance amount for the
specified test can be paid before the
final chromosome analysis report is handed
over to the patient]
Note:
Charges of the tests would change
accordingly with variation in the service
tax.
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| Reporting time |
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| Transport of referral samples |
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The samples should reach us within 24-48 hrs in cold conditions (packed with ice or cool packs). Samples received within 24 hrs are good because the viability of the cells is lost when the sample is sent late which affects the quality of chromosomes. CYTOGENETIC ANALYSIS IS NOT POSSIBLE IN FROZEN SAMPLES.
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| Contact details |
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Dr Lakshmi
Rao
Scientist
Clinical Research Facility-Medical Biotechnology
(CRF-MB)
Centre for Cellular and Molecular Biology (CCMB) Annex-II
Council of Scientific and Industrial Research
(CSIR)
Uppal Road, Hyderabad 500 007. INDIA
Tel: CRF-MB: 00-91-40-27195 541 (Off) 00-91-40-27195 544 (Lab)
CCMB: 00-91-40-27192607/2657
Fax: 00-91-40-2716 0591, 2716 0311
Email: lakshmi@ccmb.res.in |
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