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.

Lavender (EDTA), 10mL

Immediately following collection, mix sample thoroughly by gentle inverting 8 - 10 times, to prevent clotting

Lavender (EDTA), 10mL

Yellow ACD (A or B)

Whole blood:

Yellow ACD (A or B)

Amniotic fluid:

Sterile plastic conical tube or

CVS:

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)

Refrigerated

• Frozen specimen
• Hemolysis
• Quantity not sufficient for analysis (QNS) 
• Improper container

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.

Medical necessity

Hospital clients submitting a request for this assay on an outpatient with Medicare should complete and submit a Molecular Medical billing request form along with the sample.

• 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

Molecular Medicare billing request