Test Overview
Cell culture and chromosome analysis. Fluorescence In Situ Hybridization (FISH) when indicated.
Evaluation of congenital malformations, still birth, intellectual disability, growth retardation, infertility, cryptorchidism, hypogonadism, amenorrhea (primary), abnormal or ambiguous genitalia, recurrent miscarriage, Turner syndrome, Klinefelter syndrome, Down syndrome, and other suspected chromosomal disorders.
Interpretive report provided.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Specimens older than 24 hours may not grow. If full thickness biopsy is not obtained, fibroblasts may not be plentiful enough to grow. Specimens collected using non-sterile techniques may have microbial contamination.
Test Details
3 - 6 weeks
- Cytogenetics, Tissue
- Chromosome Analysis, Skin Punch
- Karyotype, Tissue
- Chromosome Analysis, Tissue for Genetic Disorder (Non-malignant)
- Chromosome Analysis, Skin Biopsy
Specimen Requirements
Specimen transport should be arranged so that the specimen is received by MLabs the same day it is collected. Call for a STAT courier if necessary. Obtain skin biopsy. Use alcohol to cleanse skin; do not use betadine. If betadine must be used, wash betadine from skin with alcohol prior to biopsy. Place full-thickness biopsy in RPMI 1640, available from MLabs.
Additional Information
Appropriate FISH testing will be performed at an additional charge when indicated. When chromosome analysis is requested to rule out certain conditions such as Turner syndrome (when indicated based on initial diagnosis) or suspected mosaicism, an additional cell count and/or special stains will be performed at an additional charge. By ordering this test the clinician acknowledges that additional reflex testing will be performed and billed at a separate additional charge if indicated.