Fetal and Solid Tissue

The certified technologists at Diagnostic Cytogenetics, Inc. are experts at culturing your fetal and solid tissue specimens.  We also offer FISH testing for the most common aneuploidies seen in pregnancy loss.

 

  • Chromosome Analysis

    Indication for Testing

    Products of conception:

    • Pregnancy loss and advanced maternal age.
    • Pregnancy loss with a history of multiple miscarriages (3 or more).
    • Fetus with multiple congenital abnormalities that is suggestive of a chromosomal defect.
    • Previous or family history of chromosomal abnormality.
    • Confirmation of prenatal diagnosis.

     

    Skin biopsy:

    • Tissue-specific mosaicism.
    • Pallister-Killian syndrome.
    • Chimerism.

     

    Abnormalities Detected

    Chromosome Analysis Detects:

    • Aneuploidy (monosomy, trisomy)
    • Deletions and duplications (>5Mb)
    • Translocations
    • Inversions

    Chromosome Analysis Does Not Detect:

    • Deletions or duplications that are too small to be seen by microscope (<5Mb)

     

    Methodology

    G-banded chromosomes from 20 metaphase cells are examined. 5 cells are completely analyzed and at least 3 karyograms are prepared. Additional chromosome analysis and special banding techniques are employed as needed. If mosaicism is suspected, G-banded chromosomes from at least 50 cells are examined.

    If there is no growth seen in culture on fetal tissue samples, the POC Aneuploidy FISH panel can be performed on cells saved from the original sample to rule out the common chromosome aneuploidies: 13, 16, 18, 21, 22, X, and Y (See FISH tab).

  • FISH Testing

    Please see our FISH page for our full test menu.

     

    POC Aneuploidy FISH Panel

    The POC Aneuploidy Fluorescent In Situ Hybridization (FISH) panel detects the most common chromosome gains and losses seen prenatally. This FISH panel can be performed on saved cells to rule out these aneuploidies on fetal tissue samples that do not grow adequately in culture to perform a chromosome analysis. It can also be ordered concurrently with cytogenetic analysis if rapid results are desired.

     

    Probe Target Abnormality
    RB1 Trisomy 13
    16qhet Trisomy 16
    D18Z1 Trisomy 18
    D21S259 Trisomy 21
    BCR Trisomy 22
    DXZ1 Sex Chromosome Aneuploidy
    DYZ3 Sex Chromosome Aneuploidy

     

     

    Microdeletion/Microduplication Syndrome Probes

     

    FISH on metaphase cells can also be performed to identify the following microdeletion/microduplication syndromes:

    Syndrome Name Chromosome Location Probe/Gene Locus
    Wolf-Hirschhorn syndrome 4p16.3 D4S96
    Cri du chat syndrome 5p15.2 D5S23
    Williams syndrome 7q11.23 Elastin
    Retinoblastoma 13q14.2 RB1
    Prader-Willi/Angelman syndrome 15q11.2-q13 SNRPN/D15S10
    Smith-Magenis syndrome 17p11.2 FLI1 and RAI1
    Miller-Dieker syndrome 17p13.3 LIS1
    22q11.2 Deletion Syndrome (DiGeorge, Velocardiofacial Syndrome) 22q11.2 TUPLE1 (D22S553, D22S609, D22S942)
    Steroid Sulfatase Deficiency/X-linked Ichthyosis Xp22.3 STS
    Kallmann Syndrome 1 Xp22.3 KAL1

     

    Methodology
    Fluorescence in-situ Hybridization (FISH) utilizes DNA probes that bind to a specific region of a chromosome. These probes produce bright colored signals that are examined on a fluorescence microscope. For metaphase FISH, ten to fifty cells are scored (depending on the probe used). For interphase FISH, two hundred cells are scored.

  • Test Information

    Test Turnaround Time* CPT Codes**
    Chromosome Analysis- POC 7-14 days (10.7 average) 88233, 88262, 88280, 88291
    Chromosome Analysis- POC, Mosaic Results 7-14 days 88233, 88261, 88280×2, 88285, 88291
    Chromosome Analysis- Skin Biopsy 7-14 days 88233, 88262, 88280, 88291
    POC Aneuploidy FISH 24 hours 88377×3
    Metaphase FISH 7-14 days (reported with chromosome analysis) 88377

    *All turnaround times are business days from specimen receipt to report issued.  Averages include weekends and holidays.

    **Some codes may vary or be charged in multiple units, depending on patient-specific testing parameters.

    If no cells are available for analysis, only set up fees will be billed.

     

    Sample reports

    Normal Chromosome Analysis Report

    Abnormal Chromosome Analysis Report

    Normal POC Aneuploidy FISH Report

    Abnormal POC Aneuploidy FISH Report

     

  • Submitting a Sample

    Specimen Requirements

     

    All solid tissue samples should be collected aseptically and transported in tissue culture media or Hank’s balanced salt solution.  DCI can provide transport media upon request. Do NOT put in water, fixative, formalin or saline. Please keep sample at room temperature.

     

    Products Of Conception/Fetal Tissue: Large chorionic villi sample (approximately 1-3 cm3) and a fetal tissue sample such as skin, lung, or pericardium. Please send multiple tissue types if possible. Label each tube with tissue type or origin.

    Skin Biopsy/Solid Tissue: 1-3 mm3 or more tissue. Label tube with tissue type or origin.

     

    For more information, please see our Specimen Requirements and Shipping Information pages.

     

    Click here for our request form and insurance pre-authorization form.

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