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Cytogenetic Services
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Chromosomal abnormalities are implicated in mental retardation, congenital malformations, dysmorphic features, primary and secondary amenorrhea, reproductive loss, infertility and neoplastic diseases. Cytogenetic evaluation of patients is helpful in the counseling of affected individuals and families. Prenatal diagnosis of chromosomal abnormalities in high-risk pregnancies helps in detecting chromosomally abnormal fetuses. Such couples can be counseled regarding continuation of pregnancy. CDFD offers cytogenetic services in variety of samples with the application of differential chromosome banding techniques and automated image analysis system for karyotyping.
CLINICAL INDICATIONS FOR INVESTIGATION OF CONSTITUTIONAL KARYOTYPE (Peripheral blood, skin fibroblasts)
1. Significant family history of:
- chromosome rearrangements
- mental retardation of possible chromosomal origin where it is not possible to study the affected individual
- a relative with a history of pregnancy losses, a malformed foetus or stillbirth of unknown etiology
2. Patient with:
- primary or secondary amenorrhea or premature menopause
- sperm abnormalities - azoospermia or severe oligospermia
- clinically significant abnormal growth short stature, excessive growth, microcephaly, macrocephaly
- ambiguous genitalia
- abnormal clinical phenotype or dysmorphism
- congenital abnormalities
- mental retardation or developmental delay
- suspected deletion/ microdeletion/ duplication syndrome
- X-linked recessive disorder in a female
- clinical features of a chromosome instability syndrome, including isolated haematologic findings
- monitoring after bone marrow transplantation
3. Couples with:
- chromosome abnormality or unusual variant detected at prenatal diagnosis
- recurrent pregnancy losses (3 or more); stillbirths, or neonatal deaths where it is not possible to study the affected conceptus
- child with a chromosome abnormality or unusual variant
- infertility of unknown etiology
CLINICAL INDICATORS FOR CYTOGENETIC PRENATAL DIAGNOSIS
(Amniotic fluid, chorionic villi, foetal blood)
- previous livebirth with a chromosome abnormality
- previous stillbirth with a potentially viable chromosome abnormality
- parental chromosome rearrangement, chromosome mosaicism or sex chromosome aneuploidy
- positive maternal serum screening result indicating an increased risk of a chromosomally abnormal foetus
- increased maternal age
- abnormal foetal ultrasound
- resolution of possible foetal mosaicism detected by prior prenatal study
- risk of chromosome instability syndrome
List of investigations done and Sample required
| Serial No. |
TEST |
Type of specimen |
| 1 |
Karyotype from Blood |
Heparin blood 2ml |
| 2 |
Mitomycin C induced chromosomal breakage study - for Fanconi Anemia |
Heparin blood 2ml |
| 3 |
Karyotype from Amniotic fluid |
Amniotic fluid 20 ml |
| 4 |
Karyotype from skin fibroblasts |
Skin biopsy (in culture medium/ saline) |
| 5 |
Karyotype from Products of conception |
Products of conception (in culture medium/ saline) |
| 6 |
Karyotype from cord blood |
Heparin blood 2ml |
| 7 |
Quantitative fluorescent PCR for rapid antenatal aneuploidy detection . for chromosomes 13, 18, 21 (Aneufast) |
Amniotic fluid/ chorionic villus sample |
| 8 |
MLPA for rapid antenatal aneuploidy detection . for chromosomes 13, 18, 21 |
Amniotic fluid/ chorionic villus sample |
| 9 |
Microdeletion study for Prader Willi syndrome (by MLPA) |
EDTA blood 2 ml |
| 10 |
Microdeletion study for Angelman syndrome (by MLPA) |
EDTA blood 2 ml |
| 11 |
Microdeletion study for DiGeorge syndrome (by MLPA) |
EDTA blood 2 ml |
| 12 |
Microdeletion study for Williams syndrome (by MLPA) |
EDTA blood 2 ml |
| 13 |
Microdeletion study for Mental Retardation Panel I (by MLPA) . Williams, Smith Magenis, Miller-Dieker, Di George, Prader Willi, Angelman, Alagille, Saethre Chotzen, Sotos syndromes |
EDTA blood 2 ml |
| 14 |
Microdeletion study for Mental Retardation Panel II (by MLPA) . Wolf Hirschhorn, Cri du chat, Langer Giedion, WAGR, Rubinstein Taybi, Kabuki syndromes |
EDTA blood 2 ml |
| 15 |
Fibroblast culture |
Amniotic fluid/ chorionic villus sample/Skin |
Kindly contact us before sending any samples (Sample acceptance policy)
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Last updated on: Thursday, 28th June, 2018.
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