| 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 # |
NF1 Sequencing and Deletion/Duplication
Test Code93941
CPT Codes
81408, 81479
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube or ACD (yellow-top) tube
Patient Preparation
Saliva: Do not eat, drink, smoke or chew gum for 30 minutes before collection.
Buccal swab: Please refer to user instructions provided with kit. Ensure the sponge tip does not come into contact with any surface prior to collection. Do not eat, drink, smoke, or chew gum for 30 minutes before collection. Do not touch swab tips or allow contact with any other object.
Minimum Volume
2 mL whole blood • 2 mL saliva • 1 buccal swab • 10 mg skin fibroblasts • 2 flasks 75% confluent • 10 mL amniotic fluid • 10 mg chorionic villi
Other Acceptable Specimens
2 mL saliva to "fill to" line collected in OGD-500, Oragene-Dx Collection Kit or
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts, cultured amniocytes or cultured chorionic villi collected in each of two separate sterile T25 culture flasks or
10 mL amniotic fluid collected in sterile plastic leak-proof container or
10 mg chorionic villi collected in a sterile tube filled with sterile culture media
1 buccal swab submitted in OCD-100A buccal kit (ORAcollect-Dx Collection Kit) or
10 mg skin fibroblasts collected in sterile plastic container or
2 flasks skin fibroblasts, cultured amniocytes or cultured chorionic villi collected in each of two separate sterile T25 culture flasks or
10 mL amniotic fluid collected in sterile plastic leak-proof container or
10 mg chorionic villi collected in a sterile tube filled with sterile culture media
Instructions
Do not hold specimen. Forward to laboratory when specimen arrives.
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.
For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.
For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission
2) Documentation of parental carrier status must be provided
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Whole blood (preferred): Normal phlebotomy procedure. Specimen stability is crucial. Store and ship room temperature immediately. Do not freeze.
Saliva: 2 mL saliva collected in the Oragene-Dx collection kit up to the "fill to" line (OGD-500/OGD-600, OGD-510/OGD-610). Do NOT remove the plastic film from the funnel lid.
For fibroblasts and skin fibroblasts, call 1-866-GENEINFO (1-866-436-3463) prior to collecting and ordering.
For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission
2) Documentation of parental carrier status must be provided
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.
Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Amniocyte or Chorionic Villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Dissected Chorionic Villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in sterile tube, filled with sterile culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.
Transport Temperature
Room temperature
Specimen Stability
Whole blood
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Fetal specimen
(cultured cells, amniotic fluid, chorionic villi)
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Room temperature: 14 days
Refrigerated: 14 days
Frozen: Unacceptable
Saliva or buccal swab
Room temperature: 14 days
Refrigerated: 14 days
Frozen: 14 days
Fibroblasts and skin fibroblasts
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Fetal specimen
(cultured cells, amniotic fluid, chorionic villi)
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Do not reject
Methodology
DNA Bait Capture • Long Range Polymerase Chain Reaction • Next Generation Sequencing • Microarray
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Tues, Thurs, Sat; Report available: 14-21 days from completed pre-authorization
Clinical Significance
Mutations within the NF1 gene are associated with Neurofibromatosis Type 1. This condition is characterized by an increased risk for neurofibromas, malignant peripheral nerve sheath tumors, pheochromocytoma, and female breast cancer. This test detects pathogenic variants in the NF1 gene.
