Fanconi anemia C

Alphabetical Test listing

Fanconi anemia C-13560

Fanconi anemia C
Fanconi Anemia (type C), DNA analysis
Jewish Heritage Test
IVS4+4A->T Mutation
322delG Mutation

If cultured cells are needed, an additional 7-12 days may be required. Additional culture fee may be included.


Identification of carrier and affected individuals for two mutations, IVS4+4A>T and 322delG, associated with Fanconi anemia, type C.

EDTA whole blood
7 mL
3.0 mL

Lavender (EDTA), 10mL

ACD whole blood
Amniotic fluid

Yellow ACD (A or B)



Amniotic fluid - 10mL (minimum 5mL)
CVS - 20mg (minimum 5mg)

Yellow ACD (A or B), sterile plastic conical tube or two confluent T-25 flasks for fetal testing


Molecular Medicare billing request

  • Complete and submit the form to notify us of the need for Allina Health Laboratory to bill insurance for Molecular testing performed
  • All information requested is required in order for your request to be completed

Ambient (preferred)


  • Frozen specimen
  • Hemolysis
  • Quantity not sufficient for analysis (QNS) 
  • Improper container
LabCorp RTP (511212): R-LC
2X per wk, or as needed
8 - 15 days

Polymerase chain reaction (PCR), primer extension and flow-sorted bead array analysis


An interpretive report will be provided


Prenatal testing is available.

Fanconi anemia (FA) (OMIM 227645) is a rare autosomal recessive disorder with a highly variable clinical presentation. About 1 in 300 people are estimated to be carriers. It affects all races and genders. Patients have bone marrow failure (aplastic anemia) and may develop other blood disorders, such as pancytopenia, myelodysplasia, or acute myelogenous leukemia. Other anomalies can also occur, which may include short stature, cafe-au-lait spots, arm and thumb anomalies, and renal malformations.There are at least five genes that cause Fanconi anemia, A, B,C,D and E. Mutations in the FAC gene account for about 14% of all FA diagnoses. The most common FAC mutation is IVS4+4A>T and is found almost exclusively in individuals who are Ashkenazi Jewish (AJ). About 1 in 89 Ashkenazi Jweish individuals are carriers. This analysis detects 99% of FAC mutations for  Ashkenazi Jewish individuals. The second most common FAC mutation is 322delG and is found in Northern European populations. 322delG and IVS4+4A>T account for 90% of all FAC mutations. Couples who are both carriers have a one in four risk of having a child with Fanconi anemia. DNA test results must be combined with clinical information for the most accurate interpretation.

This test may require preauthorization from the insurance provider. Check the payer guidelines and, if needed, obtain the pre-authorization prior to sample collection.
Result 32639-7