Lab Test

Test Definition Number : 163
Test Definition Name : Gene sequencing panel (<=30 genes)
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1182
Lab Test Name : Fanconi Anemia Panel
Status : Active
Expired : No
Updated : 2018-01-28 07:46 EST

General Attributes

Chromosome Band :
HUGO Gene Name :
ICD-Oncology Code
(includes WHO classification diagnoses)

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Microarray - Other
Sequencing - Next Generation (Massively Parallel) (NGS)
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
ICD-10 Code :
Use : Clinical - CLIA-certified lab
Genetics Category : Germline (inherited)
Comments : Background: Fanconi Anemia (FA) is characterized by bone marrow failure, increased risk for cancer, and physical abnormalities. Progressive bone marrow failure is responsible for the most significant morbidity and mortality. Clinically heterogeneous, FA individuals are at increased risk for acute myelogenous leukemia, myelodysplasia, and solid tumors of the neck, head, oral cavities, and gynecological system. Congenital abnormalities are present in FA patients and include: café au lait spots or hypopigmentation; short stature; radial ray defects; eye defects such as microphthalmia; malformations of the kidney, genitalia, heart, gastrointestinal tract, ears, and feet. Currently, 15 genes corresponding to the known FA complementation groups, have been identified that, when mutated, can cause FA. Complementation testing is the current method to identify which gene is mutated in affected FA patients, followed by Sanger sequencing of the identified gene. Comprehensive next-generation sequencing techniques will eliminate the need for time intensive complementation analysis and identify the mutated FA gene with one test. Breakage analysis is still necessary to confirm the FA diagnosis. Methodology: Component 1: Next generation sequencing will analyze the exons or coding regions of 15 Fanconi anemia-associated genes, as well as 2 additional genes which may be associated with the FA phenotype, using Illumina NextSeq 500 technology. Samples are prepared using hybridization probes to enrich exonic regions. Promoter, intronic, etc. regions are not assessed on our assay, but may contain variants that impact gene function. Component 2: A customized CytoSure “exon-centric” array (Oxford Gene Technology) will be used to detect deletions and duplications. The targeted array has enhanced probes targeted to the exonic regions of 15 Fanconi anemia-associated genes, as well as 2 additional genes which may be associated with the FA phenotype. The arrays are run using Agilent SureScan technology. The 17 Fanconi anemia-associated genes are listed below: FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (BRIP1), FANCL, FANCM, FANCM, FANCN (PALB2), FANCO (RAD51C), FANCP (SLX4), BLM, RAD51
Specimen Transport Requirements : 5-10mL Blood (ACD or EDTA) Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes


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