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 transplantations


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	Code	Test	Sample Required
1	CYTO1	Karyotype from Blood	3 ml Heparinised blood
2	CYTO2	Chromosomal Breakage study for Fanconi's Anemia by Mitomycin assay	3 ml Heparinised blood
3	CYTO3	Karyotype from Amniotic fluid/Chorionic villi	15-20 ml Amniotic fluid/20-25 mg of Chorionic villi
4	CYTO4	Karyotype from skin fibroblasts	Skin biopsy specimen in culture media
5	CYTO5	Karyotype from Products of conception	Products of conception in sterile normal saline
6	CYTO6	Karyotype from cord blood	3 ml Heparinised cord blood

KINDLY CONTACT THE LABORATORY BEFORE SENDING ANY SAMPLE FOR GENETIC TESTING

Note: Chorionic villi should be preferably sent in tissue culture media (culture media is supplied on demand. 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.

Download List of investigations and Pricelist.

Dr. Ashwin Dalal
Research