Page 382 - SRL Diagnostics

SR # TEST NAME TAT

93 Full sequencing of the ELA2 (ELANE) gene 4 - 6 WEEKS
94 Full sequencing of the OTC gene 8 WEEKS
95 Full sequencing of the TAZ gene 6 - 8 WEEKS
96 Full sequencing of the TCN2 gene associated 4 - 6 WEEKS
with Transcobalamin II Deficiency
97 Full UGT1A1 sequencing 8 WEEKS
98 genes (KCNA1 + CACNA1A) in a 113-gene 4 WEEKS
Ataxia/Episodic Ataxia panel
99 GJB2 (connexion-26) + GJB6 common deletion only 8 WEEKS
100 GLA gene associated with Fabry Disease 6 WEEKS
101 GLA gene associated with Fabry Disease 4 WEEKS
102 Gonadotropin Releasing Hormone 2 WEEKS
103 Haemochromatosis (HFE Common mutations) 7 DAYS
104 Haemolytic Uremic Syndrome/Macular Degeneration 6 - 8 WEEKS
(CFHR5 , CHFR1 , CHFR2 , CHFR3 , CHFR4)
105 Haemolytic Uremic Syndrome/Macular 6 - 8 WEEKS
Degeneration panel that includes full NGS
sequencing + large deletion/duplication
106 Hay-Wells Syndrome (p63) gene 6 WEEKS
107 HBB GENE (LOCUS 11P, 15.4) ANALYSIS 3 - 4 WEEKS
108 Hearing Loss NGS Panel 103 genes 8 WEEKS
109 Helicobacter Pylori Antigen 3 DAYS
110 Hereditary Cancer NGS Panel full sequencing 6 WEEKS
across 112 Genes+Deletion/Duplications
111 Heroin Confirmation, Serum/Plasma/Whole blood 12 DAYS
112 HIDS 6 WEEKS
113 HLA-DRB1*04 6 WEEKS
114 HMGCL gene sanger sequencing 6 WEEKS
115 Holotranscobalamin/ Active B12 7 DAYS
116 Hyper-IgE Syndrome Panel 8 WEEKS
117 Hyperinsulinemia (Gene panels: ABCC8, GCK, 4 - 6 WEEKS
GLUD1, HADH, HNF4A, INS, INSR, KCNJ11,
PDX1, SLC16A1, UCP2)
118 IGF-1 7 - 10 DAYS
119 IGVH mutation screening associated with 8 WEEKS
Chronic Lymphocytic Leukaemia (CLL)
120 IGVH mutation screening associated with 4 WEEKS
Chronic Lymphocytic Leukaemia (CLL)
121 IKBKG (NEMO) gene 4 WEEKS
122 Immunoglobulin G, subclasses 7 - 10 DAYS
123 ITGA2B and ITGB3 genes associated with 6 - 8 WEEKS
Glanzmann Thrombasthenia
124 K650T FGFR3 mutation associated with 4 WEEKS
Hypochondroplasia