Genetic testing can be very useful in identifying underlying causes of prenatal and neonatal abnormalities and fertility concerns, such as those listed below. Test results provide a tool for the individual, family and physician to better manage the health situation at issue. Genetic counseling is advised in most cases.
Prenatal and neonatal disorders:
- Abnormal ultrasound
- Advanced maternal age
- Birth defects
- Elevated AFP levels
- Exposure to teratogens
- Recurrent pregnancy loss
- Trisomy (e.g. Downs Syndrome)
- Unexplained pregnancy loss
Fertility issues and family studies:
- Male/female infertility
- Recurrent pregnancy loss
- Parental/sibling studies in families with a known chromosomal abnormality
Cytogenetic tests
Blood Chromosomes may be offered in determining chromosomal abnormalities, congenital
anomalies, infertility or failure to thrive.
Amnio Chromosomes provide prenatal diagnosis of chromosome abnormalities. This test is generally done at a gestational age of about 14 weeks or more. Fetal cells are found in the fluid, allowing for chromosomal analysis of the existing fetus.
AneuVysion testing for Chromosome 13, Chromosome 18, Chromosome 21, Chromosome X, and Chromosome Y can be utilized for a quick look at the most common trisomies found in prenatal studies. FISH methodology is used.
Tissue Chromosomes diagnose chromosomal causes for fetal death and can help determine recurrent risk factors for future pregnancies.
Specimen required
AneuVysion (FISH)
15 ml amniotic fluid – not brown or bloody in appearance
(NOTE: minimum 5 ml); room temperature
Amnio Chromosome
11.0 to 13.0 ml amniotic fluid in sterile container (1.0 ml per gestational week for 11-13 weeks gestational age) or 20.0 to 30.0 ml amniotic fluid in sterile container (at or above 14 weeks gestational age); room temperature
Blood Chromosome
Adult: (1) Sodium (Na) Heparin Tube, 3-5ml
Infant: (1) Sodium (Na) Heparin Tube, 1-3ml
Either should be room temperature
Tissue Chromosome
Call the Genetics Center for proper handling and retrieval of specimen: (260) 266-9250. You may also access the Lab Test Directory at lab.parkview.com for information.
Order test codes
Parkview Health Laboratories Genetics Center:
- AneuVysion – AVX
- Amnio Chromosome – GAMCH
- Blood Chromosome – GBLCH
- Tissue Chromosome – GTISS