|
|
| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
Chromosome Analysis, DEB Assay for Fanconi Anemia, Prenatal
Test Code17455
CPT Codes
88235, 88249
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
25 mL fresh amniotic fluid collected in sterile, nontoxic centrifuge tubes
Minimum Volume
15 mL
Other Acceptable Specimens
Primary or early passage monolayer prenatal cultures submitted in (x2) T-25 flasks filled with culture medium
Instructions
Fanconi anemia(FA)is a relatively rare condition, resulting from a group of recessive genetic diseases, that is characterized by an increased incidence of neoplasia, especially leukemia. Cultured cells (amniocentesis or CVS) or placental tissues from affected fetuses show an increased number of chromosome breaks and aberrations with alkylating agents such as diepoxybutane (DEB). Laboratory must be notified in advance of receipt of specimen. Specific indication for study must be provided.
Please call the Cytogenetics laboratory to arrange for specimen submission at 800-336-3718 ext. 5300.
Clinical history/reason for referral is required with specimen submission.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not reject.
Note: If cultures yield no mitoses for analysis, test may be canceled and replaced with a Prenatal Specimen Culture code; or with a Cytogenetics Communication, if a communication is required.
Please call the Cytogenetics laboratory to arrange for specimen submission at 800-336-3718 ext. 5300.
Clinical history/reason for referral is required with specimen submission.
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not reject.
Note: If cultures yield no mitoses for analysis, test may be canceled and replaced with a Prenatal Specimen Culture code; or with a Cytogenetics Communication, if a communication is required.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: See instructions
Refrigerated: See instructions
Frozen: See instructions
Refrigerated: See instructions
Frozen: See instructions
Methodology
Tissue Culture • Chromosome Breakage (DEB)
Setup Schedule
Monday-Saturday Morning Report available: 21 Days
Reference Range
See Laboratory Report
Clinical Significance
The DEB clastogen assay is considered a specific test in
the diagnosis of Fanconi anemia. Precise specificity and
sensitivity levels have not been established due to the
rarity of the disease.
the diagnosis of Fanconi anemia. Precise specificity and
sensitivity levels have not been established due to the
rarity of the disease.
