Prenatal diagnosis of copy number changes (gains or losses) across the entire genome. Diagnosing chromosomal causes for fetal death. Determining recurrence risk of future pregnancy losses.
Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods such as conventional chromosome and fluorescence in situ hybridization (FISH) studies. Determining if apparently balanced abnormalities identified by previous conventional chromosome studies have cryptic imbalances, since a proportion of such rearrangements that appear balanced at the resolution of a chromosome study are actually unbalanced when analyzed by higher-resolution chromosomal microarray. Assessing regions of homozygosity related to uniparental disomy or identical by descent
Interpretive report provided
21 - 30 days
Additional instructions for muscle biopsy, if sending:
1. Wash biopsy site with an antiseptic soap.
2. Thoroughly rinse area with sterile water.
3. Do not use alcohol or iodine preparations.
4. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.
1. Attempt to identify and send only fetal tissue for analysis.
2. If a fetus cannot be specifically identified, collect 50-mg villus material or tissue that appears to be of fetal origin.
3. If multiple specimen types are sent, send each specimen in a separate container. Multiple specimens received (eg, placenta and fetal thigh) will be ordered under 1 test. All specimens will be processed separately
Send the container(s) to Specimen Processing ambient
1. Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.
2. Notify the laboratory if the pregnancy involves an egg donor or gestational carrier.
Autopsy: 1 cm(3) biopsy specimen of muscle/fascia from thigh
Test performed by Mayo Clinic Laboratories