Indications For Patau syndrome (trisomy 13)
Patau syndrome, also known as trisomy 13, is a syndrome in which a patient has an additional chromosome 13,
Patau syndrome symptoms include:
- Mental & motor retardation
- Polydactyly (extra digits)
- Holoprosencephaly (failure of the forebrain to divide properly).
- Heart defects
- Structural eye defects, including microphthalmia, Peters anomaly, cataract, iris and/or fundus (coloboma), retinal dysplasia or retinal detachment, sensory nystagmus, cortical visual loss, and optic nerve hypoplasia
- Meningomyelocele (a spinal defect)
- Omphalocele (abdominal defect)
- Abnormal genitalia
- Abnormal palm pattern
- Overlapping of fingers over thumb.
- Cutis aplasia (missing portion of the skin/hair)
- Prominent heel
- Microcephaly
- Low-set ears
- Cleft palate or hare lip
Collection Procedure
• Amniotic fluid
Discard the first 2 cc of fluid to reduce the risk of maternal cell contamination. Aseptically transfer 15-20 cc into sterile plastic conical tubes labeled with patient’s name and date of birth.
• CVS
Aseptically transfer 5-10mg into sterile plastic conical tubes containing sterile transport medium. Label tube with patient’s name and date of birth.
A completed test requisition form must be included with every sample. A transport kit is available upon request.
Specimen Requirements
Testing for Patau syndrome testing can be performed as a STAT FISH study on interphase cells followed by complete cytogenetic analysis (karyotype)
Transport Temperature
Room temperature (DO NOT refrigerate, freeze or centrifuge)
Methodology
24-hour laboratory testing for Patau Syndrome (trisomy 13) can be performed by Fluorescence in situ hybridization on interphase nuclei followed by confirmatory cytogenetic analysis.
Causes for Rejection
Frozen specimen, inappropriate container
Turnaround Time
FISH: 24 hours
Cytogenetic analysis: 7-10 days