Page 383 - SRL Diagnostics

SR # TEST NAME TAT

125 K650T FGFR3 mutation associated with 4 WEEKS
Hypochondroplasia
126 KCNA1 gene (Episodic Ataxia Type 1) 4 WEEKS
127 KCNE1 + KCNQ1 genes 8 WEEKS
128 KCNQ2 only sequencing + deletions/duplications 3 WEEKS
129 Limb-girdle muscular dystrophy gene sequenc- 4 - 6 WEEKS
ing for LGMD2C (SGCG)
130 Limb-girdle muscular dystrophy NGS panel 8 WEEKS
131 LPIN2 6 WEEKS
132 Lycopene (Carotinoid) 2 WEEKS
133 Marfan /Loeys-Dieta/TAAD Syndromes 19-gene panel 6 - 8 WEEKS
(NGS sequencing + deletion/duplication testing) which
includes – ACTA2, CBS, COL3A1, COL5A1, COL5A2,
FBN1, FBN2, FLNA, MED12, MYH11, MYLK, NOTCH1,
PLOD1, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1,
TGFBR2
134 Marfan Syndrome – you can either test for the 6 WEEKS
single gene (FBN1 full sequencing + deletion/-
duplications
135 MECP2 full sequencing + deletion/duplication 8 WEEKS
136 Melatonin in whole blood EDTA 3 WEEKS
137 Melatonin in Serum 7 - 10 DAYS
138 Melatonin in Saliva 7 - 10 DAYS
139 Melatonin in Urine 7 - 10 DAYS
140 Methylmalonic Acidemia (MUT, MMAA, MMAB, 8 WEEKS
MMADHC, MCEE )
141 Microcephaly NGS Panel 35 genes 8 WEEKS
142 Morphine 12 DAYS
143 MPI gene associated with CDG1B 6 - 8 WEEKS
144 MPL common mutation (W515X) screening 6 WEEKS
145 Mt.DNA-associated Leigh Syndrome 3 WEEKS
146 Muscular Dystrophy/Myopathy NGS Panel 183 8 WEEKS
genes
147 Mycophenolate 7 - 10 DAYS
148 Neonatal Diabetes/MODY Panel 6 - 8 WEEKS
149 Neuronal Migration Disorder NGS Panel 111 genes 8 WEEKS
150 Nitrofurantoin,Serum/Plasma) 10 DAYS
151 N-methyl-D-Aspartate Recpt IgG, Serum 7 - 10 DAYS
152 N-methyl-D-Aspartate Recpt,CSF 10 DAYS
153 Nuclear gene-associated Leigh Syndrome NGS 8 WEEKS
Panel 77 genes
154 Nuclear Matrix Protein 22 (NMP22) 5 - 7 DAYS
155 Optic Atrophy NGS Panel – OPA1 + OPA3 genes 6 WEEKS
156 Organic Acids in Urine 7 - 10 DAYS
157 Ostase (Bone AP) 7 - 10 DAYS