FGFR2- Related disorders : FGFR2 Targeted Analysis

Test Information

FGFR2 targeted analysis is a molecular test used to identify common variants in the gene associated with FGFR2-Related disorders including Apert syndrome, Crouzon syndrome, and Jackson-Weiss syndrome.

Turnaround Time

2 weeks

CPT Code(s)

81404

Cost

$500

Genes

Clinical Information

Craniosynostosis is a common feature among these disorders.
Pfeiffer syndrome may also include broad and deviated great toes and thumbs and partial syndactyly.
Apert syndrome may involve syndactyly, hearing loss, hyperhidrosis and occasionally varying degrees of intellectual disability.
Crouzon syndrome includes normal intellect with dental problems and possible hearing loss.
Jackson-Weiss syndrome includes short, wide deviated great toes and foot syndactyly with normal hards and intellect.
Beare Stevenson with cutis gyrata patients will have delayed development, acanthosis nigricans of the hands, feet and genital areas along with the cutis gyrata.
Bent bone dysplasia is associated with craniosynostosis, prenatal teeth, bowing of the long bones, decreased mineralization of the calvarium, hypoplastic pubis and clavicles, and dysmorphic features.
LADD syndrome is associated with abnormal tear secretion, ear structure changes and possible hearing loss, decreased saliva production and dental abnormalities, and hand malformations.
Antley-Bixler syndrome (type 2) is associated with dysmorphic features including craniosynostosis, skeletal findings such as contractures, bowing, and increased risk of fractures, significant respiratory complications, atrial septal defect, and variable intellectual disability.
Scaphocephaly, maxillary retrusion, and mental retardation is described as a distinct phenotype of scaphocephaly with mild intellectual disability, retrognathia, and hypertelorism.

Indications

Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutations within a family to allow for carrier testing and prenatal diagnosis.

Specimen Requirements

5 to 7 ml of peripheral blood collected in an EDTA (lavender top) tube is the preferred specimen type. The minimal blood needed for reliable DNA isolation is 3 ml. Extracted DNA, dried blood spots, and saliva are also accepted for this test.

Transport Instructions

The specimen should be kept at room temperature and delivered via overnight shipping. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery.

Prenatal Testing Information

Prenatal diagnosis is available if the familial mutations are known or there are clinical features identified via ultrasound suggestive of a diagnosis in the fetus. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.

Have Questions Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC

Molecular Testing, Targeted Analysis
Meet The Jones Family

Meet The Jones Family

The journey to becoming parents did not start as an easy one for my husband and I. We suffered the heartache of miscarriage and the unimaginable pain of burying our first born child. Our son, sweet 1 lb 1.4 ounce, 12 inches long, teeny, tiny little Joseph “Hamilton” Jones was born with spina bifida, hydrocephalus, and a heart defect. It tore our hearts out leaving the hospital without him, knowing our dreams and hope for the future were shattered. ...

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