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Lab Dept:
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Anatomic Pathology
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Test Name:
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CRANIOSYNOSTOSIS (FGFR) PANEL SEQUENCING
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General Information
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Lab Order Codes:
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FGFR
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Synonyms:
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FGFR 1, 2, 3 genes; Fibroblast Growth Factor Receptor genes
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CPT Codes:
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81400 – Molecular Pathology procedure, Level 1
81404 – Molecular Pathology procedure, Level 5
81479 – Molecular Pathology unlisted procedure
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Test Includes:
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This test combines the individual sequencing for FGFR 1, 2 and 3 into one panel.
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Logistics
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Test Indications:
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Several distinct syndromes, including Crouzon, Apert, Pfeiffer, Jackson-Weiss and the nonsyndromic syndromes, have been discovered to be caused by different mutations within the Fibroblast Growth Factor Receptor gene family (FGFR 1,2, and 3). These diseases represent the bulk of genetic conditions resulting in cranial dysmorphologies which are a result of premature closure of the sutures between the bones of the skull. If not surgically corrected, the brain continues to grow within a small skull causing protruding eyeballs, an altered head shape and possible brain damage. These syndromes may be either spontaneous or inherited in an autosomal manner. In the inherited form, the disease is considered fully penetrant. Each disorder has differences in clinical symptoms, but the differences are often subtle and generally overlap.
Reasons for referral:
● To determine whether one of these syndromes is responsible for abnormalities of the skull or eyes.
● To discriminate between syndromes with overlapping clinical symptoms in an affected individual.
● To establish whether symptoms are spontaneous or inherited within a family.
● To evaluate the risk of having a child with one of these syndromes.
● Individuals at risk who wish prenatal diagnosis
● For ambiguous patients, this test is often included with testing for Saethre-Chotzen syndrome.
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Lab Testing Sections:
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Anatomic Pathology - Sendouts
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Referred to:
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Center for Genetic Testing at Saint Francis, Tulsa, Oklahoma
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Phone Numbers:
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MIN Lab: 612-813-6280
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STP Lab: 651-220-6550
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Test Availability:
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Daily, 24 hours
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Turnaround Time:
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3 weeks
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Special Instructions:
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A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact the Molecular Laboratory at 866-846-0315 for more information.
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Specimen
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Specimen Type:
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Whole blood
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Container:
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Lavender top (EDTA) tube
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Draw Volume:
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Child/Adults: 6-10 mL (Minimum 2 mL) blood (2 tubes of 3-5 mL each preferred)
Newborns: 1-2 mL blood
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Processed Volume:
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Same as Draw Volume
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Collection:
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Routine venipuncture. Mix specimen thoroughly by gentle inversion.
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Special Processing:
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Lab Staff: Do Not centrifuge. Specimen should remain in original collection container. Send EDTA blood at room temperature via overnight courier. A Molecular Genetics Laboratory Test Requisition must accompany the specimen. Contact Chapman Institute at 866-846-0315 for further information. If blood will not be sent immediately, refrigerate until shipped.
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Patient Preparation:
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None
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Sample Rejection:
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Some specimens cannot be analyzed because of improper collection or improper handling in transit. Other specimens cannot be processed until patient information or clinical diagnostic information is received. Please follow collection and transport instructions carefully. Notification of rejected or problem specimens will be made on receipt.
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Interpretive
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Reference Range:
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No mutations detected
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Critical Values:
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N/A
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Limitations:
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N/A
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Methodology:
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PCR amplification and DNA sequencing of exon 7 and 9 (IIIa and IIIc) of the FGFR2 gene, and point mutation testing of the FGFR1 and FGFR3 genes.
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References:
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Center for Genetic Testing at Saint Francis, Tulsa, Oklahoma, April 2007
(866) 846-0315 Fax (918) 502-1723
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Updates:
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5/20/2004: Test previously performed at H.A. Chapman Institute.
2/5/2013: CPT update
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