Cytogenetics Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print FISH ANALYSIS, X AND Y CHROMOSOMES Pseudonyms: Ambiguous genitalia, Male infertility, Y chromosome translocation, XX Male, Turner syndrome
The Molecular Genetics Laboratory performs testing of multiple genetic diseases, ranging in complexity from single mutation analysis in Achondroplasia to sequencing of the entire Fibrillin gene for Marfan syndrome testing. The laboratory offers
ACHONDROPLASIA ALBRIGHT HEREDITARY OSTEODYSTROPHY (GNAS1) AMYOTROPHIC LATERAL SCLEROSIS (ALS) ANDROGEN INSENSITIVITY SYNDROME ANGELMAN SYNDROME, METHYLATION STUDIES APERT SYNDROME - FGFR2 EXON 8 BLAU SYNDROME (NOD2/CARD15 COMPLETE GENE) BRAF -
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page ACHONDROPLASIA Gene Symbol: FGFR3 Chromosomal Locus: 4p16.3 Protein: Fibroblast growth factor receptor 3 precursor Pseudonyms: ACH
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page ALBRIGHT HEREDITARY OSTEODYSTROPHY (GNAS1) Syndromes: Albright Hereditary Osteodystrophy (AHO), Pseudohypoparathyroidism type 1A (PHP 1A)
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page AMYOTROPHIC LATERAL SCLEROSIS (ALS) Gene Symbol: SOD1 Chromosomal Locus: 21q22.11 Protein: Superoxide dismutase Pseudonyms: Lou Gehrig
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page ANDROGEN INSENSITIVITY SYNDROME Gene Symbol: AR Chromosomal Locus: Xq12 Protein: Androgen Receptor Pseudonyms: Testicular Feminization
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page ANGELMAN SYNDROME, METHYLATION STUDIES Gene: UBE3A (imprinted) Chromosomal Locus: 15q11.2 Protein: Ubiquitin-protein ligase E3A TURNAROUND
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page APERT SYNDROME - FGFR2 EXON 8 Gene Symbol: FGFR2 (exon 8 only) Chromosomal Locus: 10q26 Protein: Fibroblast growth factor receptor 2
Molecular Test Requisition | Specimen Information | Billing Information | Contact Us | CPT Codes | Print Page BLAU SYNDROME (NOD2/CARD15 COMPLETE GENE) Gene Symbol: NOD2 Chromosomal Locus: 16q12.1 Protein: Nucleotide-Binding Oligomerization Domain