Test Name & Code:
• Test Name: FGFR1 Sequencing
• Test Code: 3184
• Test Code: 3184
Related Diseases & Genes:
• Pfeiffer syndrome (OMIM #: 101600) || Gene: FGFR1 (OMIM #: 136350)
• Jackson-Weiss syndrome (OMIM #: 123150)
• Trigonocephaly 1 (OMIM #: 190440)
• Osteoglophonic Dysplasia (OMIM #: 166250)
• Autosomal dominant Kallmann syndrome 2 (OMIM #: 147950)
• Jackson-Weiss syndrome (OMIM #: 123150)
• Trigonocephaly 1 (OMIM #: 190440)
• Osteoglophonic Dysplasia (OMIM #: 166250)
• Autosomal dominant Kallmann syndrome 2 (OMIM #: 147950)
Synonyms:
-none-
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 3 weeks
• Performed: Everyday
• Reported: 3 weeks
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Dsymorphology
