Page 381 - SRL Diagnostics

SR # TEST NAME TAT

60 Cornelia de Lange Syndrome , HDAC8, NIPBL, 6 - 8 WEEKS
RAD21, SMC1A, SMC3
61 Cortical Brain Malformation NGS Panel 43 genes 12 - 16 WEEKS
62 Cortisol, Saliva 2 WEEKS
63 CPT 2 Gene 4 WEEKS
64 CSTB expansion first 4 WEEKS
65 Cystine, Quant. 24 hr Urine 7 DAYS
66 D-Arabinitol 10 - 14 DAYS
67 Dementia, Autoimmune Evaluation, Serum 10 - 12 DAYS
68 Dexamethasone Level 7 - 10 DAYS
69 DHEA, saliva 2 WEEKS
70 DOCK8 & STAT3 Gene in hypr IGE syndrome 6 - 8 WEEKS
71 Dominant and recessive Ostoegenesis Imperfecta + 6 - 8 WEEKS
Amelogenesis Imperfecta (AMELX, BMP1, COL1A1,
COL1A2, CRTAP, DLX3, DSPP, ENAM, FAM20A,
FAM83H, FKBP10, IFITM5, KLK4, MMP20, LEPRE1,
PPIB, SERPINF1, SERPINH1, SP7, WDR72)
72 Dystonia NGS Panel 90 genes 8 WEEKS
73 E coli Shiga Toxin EIA 3 - 4 DAYS
74 Echinococcus DNA (detects E. multilocularis and 7 - 10 DAYS
granulosis sample: f.e. biopsy, pulmonal aspirate)
75 Ehlers-Danlos Syndrome, so we actually use a 6 - 8 WEEKS
“Connective Tissue Gene Panel
76 Encephalopathy, Autoimmune Evaluation, Serum 10 - 12 DAYS
77 Endomysial IgG Abs 7 - 10 DAYS
78 Enterovirus RNA in Blood (Echo-, Coxsackie-, 7 - 10 DAYS
Polio and Rhinovirus)
79 Enterovirus RNA in CSF (Echo-, Coxsackie-, 7 - 10 DAYS
Polio and Rhinovirus)
80 Enterovirus RNA in faces (Echo-, Coxsackie-, 7 - 10 DAYS
Polio and Rhinovirus)
81 Epileptic Encephalopathy NGS Panel 80 genes 8 WEEKS
82 Estradiol (E2) 2 WEEKS
83 FGFR1 full gene sequencing 6 WEEKS
84 FGFR3 gene, Post Natal, Whole Blood 3 WEEKS
85 FGFR3 gene, Pre Natal, Corionic Villi 1 WEEKS
86 FMF common mutation testing 6 WEEKS
87 FOXG1 full sequencing + deletion/duplication 8 WEEKS
88 Full IVD gene sequencing (associated with 8 - 12 WEEKS
Isovaleric academia)
89 Full sequencing + deletion/duplication testing for the 8 WEEKS
MECP2 gene (associated with Rett Syndrome)
90 Full sequencing of the ASL gene 4 WEEKS
91 Full sequencing of the CLCN1 gene 4 WEEKS
92 Full sequencing of the CSF1R gene (FMS Gene 8 WEEKS
mutation)