Human genetic

03-11-2023

 

STT Code Test Items TAT Specimen (mL) Method
1 Z020 AML1/ETO (RUNX1/RUNX1T1) gene rearrangement [RT-PCR] 7 days EDTA WB 3.0ml
EDTA BM 3.0ml		 RT-nested
PCR
2 S875 APOE genotype [Real-time PCR] 7 days EDTA WB 3.0ml
EDTA BM 3.0ml		 PCR with
hybridization
3 S853 BCR/ABL1 Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
4 M345 BRAF gene mutation [Real-time PCR] 6 days Puncture aspiration specimen (FNA) 0.2
Paraffin block &
1 H&E slide
Unstained slide 10 μm thickness 5 pieces &
1 H&E slide		 Real-time
PCR
5 L446 BRAF gene mutation [Sequencing] 8 days Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide		 Sanger
sequencing
6 L535 CALR gene mutation [Fragment analysis & Sequencing] 13 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger
sequencing
7 B537 CBFB/MYH11 Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
8 N915 CBFB/MYH11 gene rearrangement [RT-PCR] 6 days EDTA WB 3.0ml
EDTA BM 3.0ml		 RT-nested
PCR
9 M347 CEBPA gene mutation [Sequencing] 17 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger
sequencing
10 P030 CEL DX panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
11 K210 Centromere 12 [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
12 B539 Centromere 8 [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
13 S351 Ch (Hematologic BM) 16 days Specialized tool BM 5.0ml Cell culture
14 S460 Ch (Hematologic PB) 16 days Heparin WB 5.0ml
Specialized tool PB 5.0ml		 Cell culture
15 L780 Ch(PB, General) 13 days Heparin WB 5.0ml Cell culture
16 S456 Ch(PB, High Resolution) 13 days Heparin WB 5.0ml Cell culture
17 B533 Chromosome 13q (RB1, 13q14) [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
18 B574 Chromosome 1q21 (1p32/1q21) [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
19 B545 Chromosome 20q (20q12) [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
20 B547 Chromosome 5q (5q31) [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
21 B546 Chromosome 7q (7q22/7q31) [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
22 N040 c-KIT gene mutation (BM) [Sequencing] 18 days EDTA BM 3.0ml Sanger sequencing
23 X757 c-KIT gene mutation (WB) [Sequencing] 18 days EDTA WB 3.0ml Sanger sequencing
24 X348 c-KIT gene mutation (Tissue) [Sequencing] 13 days "Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide"		 Sanger sequencing
25 X795 Cri-du-chat syndrome (amniotic fluid) [FISH] 18 days Amniotic Fluid 20.0ml FISH
26 B542 Cri-du-chat syndrome, del(5p) [FISH] 12 days Heparin WB 3.0ml
Heparin BM 3.0
ml		 FISH
27 M341 CYP2C19 Major Polymorphism [Sequencing] 8 days EDTA WB 3.0ml Sanger sequencing
28 M340 CYP2C9 Major Polymorphism [Sequencing] 8 days EDTA WB 3.0ml Sanger sequencing
29 X798 Digeorge I, CATCH22 (amniotic fluid) [FISH] 18 days Amniotic fluid
20.0ml		 FISH
30 B536 Digeorge I, CATCH22, del(22q11.2) [FISH] 12 days Heparin WB 5.0ml FISH
31 X031 E2A/PBX1 (TCF3/PBX1) gene rearrangement [RT-PCR] 7 days EDTA WB 6.0ml
EDTA BM 3.0ml		 RT-nested
PCR
32 N537 EGFR (cell-free DNA) [Real-time PCR] 7 days   Real-time PCR
33 L694 EGFR (Tissue) [PNA clamping Real-time PCR] 7 days Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide		 Peptide nucleic acid mediated
Real-time PCR clamping
method
34 M040 EGFR (Tissue) [Pyrosequencing] 7 days Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide		 PCR &
pyrosequencing
35 B559 ETV6/RUNX1 (TEL/AML1) Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
36 M683 Factor V Leiden R534Q mutation [Real-time PCR] 7 days EDTA WB 3.0ml PCR with hybridization
37 N042 FGFR1 Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
38 B661 FGFR3 gene Major mutation (Achondroplasia) [Sequencing] 10 days EDTA WB 5.0ml Sanger sequencing
39 B577 FIP1L1/PDGFRA Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
40 M745 FLT3-ITD mutation [Fragment analysis & Sequencing] 17 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger sequencing &
PCR fragment analysis
41 M746 FLT3-TKD mutation [Sequencing] 17 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger sequencing
42 M019 GLA gene mutation (Fabry disease) [Sequencing] 24 days EDTA WB 3.0ml Sanger sequencing
43 B341 HBB gene mutation (β-Thalassemia) [Sequencing] 18 days EDTA WB 6.0 Sanger sequencing
44 K579 HER2 FISH 8 days Paraffin block &
H&E slide
4 unstained slides
& H&E slide		 FISH
45 Z131 HLA-B51 6 days EDTA WB 3.0ml PCR-SSP
46 C952 IGH Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0
ml		 FISH
47 L020 IGH gene rearrangement (Tissue) 13 days paraffin block
Unstained slide
4 sheets of 20 μm thickness &
1 H&E slide		 PCR-PAGE
48 P798 IGH gene rearrangement (WB/BM) 13 days EDTA WB 3.0ml
EDTA BM 3.0ml		 PCR-PAGE
49 B548 IGH/BCL2 Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
50 B558 IGH/CCND1 Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
51 B572 IGH/FGFR3 Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
52 B573 IGH/MAF Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
53 N043 IGH/MAFB Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
54 H978 IGH/MYC/CEP 8 Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
55 M031 Imatinib drug resistance (Major BCR/ABL1) [Sequencing] 13 days EDTA WB 3.0ml
EDTA BM 1.5ml		 Sanger sequencing
56 M049 JAK2 gene Exon 12 mutation [Sequencing] 10 days EDTA WB 3.0ml Sanger sequencing
57 Z041 JAK2 V617F mutation [Real-time PCR] 7 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Allelespecific PCR
58 M562 KRAS gene mutation [Sequencing] 8 days "Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide"		 Sanger sequencing
59 M563 KRAS gene major mutation [Pyrosequencing] 6 days "Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide"		 PCR & pyrosequencing
60 K157 Major BCR/ABL1 (b2a2, b3a2) quantitative (IS) [Real-time PCR] 7 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Real-time RT-PCR
61 M555 Major BCR/ABL1 [RT-PCR] 7 days EDTA WB 5.0ml
EDTA BM 3.0ml		 RT-nested PCR
62 M556 Minor BCR/ABL1 [RT-PCR] 7 days EDTA WB 5.0ml
EDTA BM 3.0ml		 RT-nestedPCR
63 K437 MDM2 FISH 8 days Paraffin block &
H&E slide
Unstained slide
Chapter 4 & H&E slide		 FISH
64 B553 MLL (KMT2A) Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
65 L665 MPL gene W515 mutation [Sequencing] 13 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger sequencing
66 K470 MSI (Microsatellite Instability) 8 days Paraffin block
Unstained slide
4 sheets of 20 μm thickness &
1 H&E slide		 Multiplex PCR &
capillary electrophoresis
67 N041 MTHFR A1298C [Real-time PCR] 9 days EDTA WB 3.0ml PCR with hybridization
68 M672 MTHFR C677T [Real-time PCR] 9 days EDTA WB 3.0ml PCR with hybridization
69 Z226 NOTCH3 gene mutation (CADASIL) [Sequencing] 17 days EDTA WB 5.0ml Sanger sequencing
70 P538 NOTCH3 gene, Familial mutation (CADASIL) [Sequencing] 10 days EDTA WB 3.0ml Sanger sequencing
71 M346 NPM1 gene mutation [Sequencing] 10 days EDTA WB 5.0ml
EDTA BM 3.0ml		 Sanger sequencing
72 M029 NRAS gene mutation [Sequencing] 8 days Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide		 Sanger sequencing
73 M030 NRAS gene major mutation [Pyrosequencing] 6 days Paraffin block &
1 H&E slide
Unstained slide
5 sheets of 10 μm thickness &
1 H&E slide		 PCR & pyrosequencing
74 B570 p16, 9p21 [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
75 L025 PDGFRA gene mutation [Sequencing] 13 days Paraffin block
Unstained slide
5 sheets of 10 μm thickness		 Sanger sequencing
76 S541 PDGFRB Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
77 S481 PML/RARA Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
78 G229 PML/RARA quantitative (BM) [Real-time PCR] 9 days EDTA BM 5.0ml Real-time RT-PCR
79 M747 PML/RARA quantitative (WB) [Real-time PCR] 9 days EDTA WB 5.0ml Real-time RT-PCR
80 H188 PML/RARA qualitative (BM) [RT-PCR] 6 days EDTA BM 3.0ml RT-nested PCR
81 S884 PML/RARA qualitative (WB) [RT-PCR] 6 days EDTA WB 3.0ml RT-nested PCR
82 M678 Post-SCT (Stem Cell Transplantation) engraftment analysis 14 days EDTA WB 3.0ml PCR-PAGE
83 M677 Pre-SCT (Stem Cell Transplantation) 14 days Patient & donor respectively
EDTA WB 3.0ml
Patient & donor respectively
EDTA-BM 3.0ml		 PCR-PAGE
84 X796 Prader-Willi/Angelman syndrome (amniotic fluid) [FISH] 10 days Amniotic fluid 20.0ml FISH
85 B556 Prader-Willi/Angelman syndrome, del(15q11) [FISH] 18 days Heparin WB 5.0ml FISH
86 M684 Prothrombin G20210A mutation [Real-time PCR] 10 days EDTA WB 3.0ml PCR with hybridization
87 M012 QF-Ch (AF) 14 days Amniotic fluid 20.0ml QF-PCR & culture
88 M008 QF-PCR 21 (Down rapid.) 5 days Amniotic fluid 20.0ml PCR-PAGE
89 M009 QF-PCR 21,18,13 (Aneu.) 5 days Amniotic fluid 20.0ml PCR-PAGE
90 M011 QF-PCR 21,18,13,X,Y (Aneu.) 5 days Amniotic fluid 20.0ml PCR-PAGE
91 L002 RNF213 gene R4810K mutation (Moyamoya disease) [Sequencing] 10 days EDTA WB 3.0ml Sanger sequencing
92 L848 ROS1 FISH 8 days Paraffin block &
H&E slide
Unstained slide
Chapter 4 & H&E slide		 FISH
93 L781 RPN1/MECOM Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
94 S869 RUNX1/RUNX1T1 (AML1/ETO) Fusion Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
95 Z906 SCA 1 gene mutation (Spinocerebellar ataxia 1) 17 days EDTA WB 3.0ml PCR-PAGE
96 N232 SCA 1,2,3,6,7 17 days EDTA WB 3.0ml PCR-PAGE
97 Z907 SCA 2 gene mutation (Spinocerebellar ataxia 2) 17 days EDTA WB 3.0ml PCR-PAGE
98 Z908 SCA 3 gene mutation (Spinocerebellar ataxia 3) 17 days EDTA WB 3.0ml PCR-PAGE
99 Z909 SCA 6 gene mutation (Spinocerebellar ataxia 6) 17 days EDTA WB 3.0ml PCR-PAGE
100 Z910 SCA 7 gene mutation (Spinocerebellar ataxia 7) 17 days EDTA WB 3.0ml PCR-PAGE
101 S160 SRY gene (Sex determining Region Y) [PCR] 10 days EDTA WB 5.0ml PCR
102 L023 TCR gamma gene rearrangement (Tissue) 13 days Paraffin block
Unstained slide
4 sheets of 20 μm thickness &
1 H&E slide		 PCR-PAGE
103 P799 TCR gamma gene rearrangement (WB/BM) 13 days EDTA WB 3.0ml
EDTA BM 3.0
ml		 PCR-PAGE
104 S893 TEL/AML1 (ETV6/RUNX1) gene rearrangement [RT-PCR] 6 days EDTA WB 3.0ml
EDTA BM 3.0
ml		 RT-nested PCR
105 N956 TERT gene promoter mutation [Sequencing] 17 days Unstained slide
5 sheets of 10 μm thickness
& 1 H&E slide		 Sanger sequencing
106 P476 TGFBI gene R124H mutation (Corneal dystrophy, Avellino type) [Sequencing] 10 days EDTA WB 3.0ml Sanger sequencing
107 B576 TP53 Gene [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0
ml		 FISH
108 S233 TPMT Major Polymorphism [Sequencing] 13 days EDTA WB 3.0ml Sanger sequencing
109 C955 Trisomy 18 [FISH] 4 days Amniotic fluid 10.0ml
Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
110 C954 Trisomy 21 & 13 [FISH] 4 days Amniotic fluid 10.0ml
Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
111 N131 TTR gene mutation (Hereditary Transthyretin Amyloidosis) [Sequencing] 18 days EDTA WB 3.0ml Sanger sequencing
112 N476 UGT1A1 gene mutation (Crigler-Najjar syndrome) [Sequencing] 17 days EDTA WB 3.0ml Sanger sequencing
113 P535 UGT1A1 genotype, Major variants (irinotecan sensitivity) [Sequencing] 12 days EDTA WB 3.0ml PCR & pyrosequencing
114 M342 VKORC1 genotype [Sequencing] 10 days EDTA WB 3.0ml Sanger sequencing
115 X797 Williams syndrome (amniotic fluid) [FISH] 18 days Amniotic fluid 20.0ml FISH
116 B560 Williams syndrome, del(7q11) [FISH] 12 days Heparin WB 5.0ml FISH
117 B561 XY [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
118 S557 Parentage test 6 days EDTA WB 3.0ml
oral swab		 PCR-PAGE
119 N955 NUDT15 genotype [Sequencing] 17 days EDTA WB 3.0ml Sanger sequencing
120 K578 ALK FISH 8 days Paraffin block & H&E slide
4 unstained slides & H&E slide		 FISH
121 P358 ALL 2 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
122 N046 ALL Panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
123 P784 CLL 3 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
124 S354 Ch CVS-D 8 days CVS 20.0~40.0 mg Cell culture
125 S353 Ch CVS-L 18 days CVS 20.0~40.0 mg Cell culture
126 S355 Ch (Abortus) 18 days Abortus 5.0~10.0 g Cell culture
127 S352 Ch (AF) 14 days Amniotic Fluid
20.0ml		 Cell culture
128 S534 Ch (Cord) 10 days Heparin
Cord blood 3.0		 Cell culture
129 M333 MPN gene mutations (JAK2 V617F/Exon 12, CALR, MPL W515K/L) 13 days EDTA WB 3.0ml
EDTA BM 3.0ml		 Sanger sequencing
130 P033 ITP/AA Dx panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
131 P034 CLL Dx panel [FISH] 7 days "Heparin WB 5.0ml
Heparin BM 5.0ml"		 FISH
132 N049 CLL Panel [FISH] 7 days "Heparin WB 5.0ml
Heparin BM 5.0ml"		 FISH
133 M053 Hemavision, Acute leukemia gene rearrangement profile [RT-PCR] 8 days EDTA WB 8.0ml
EDTA BM 3.0ml		 RT-nested PCR
134 C957 MDS Panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
135 P028 MDS Dx panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
136 N047 AML Panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
137 P024 AML 5 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
138 P035 Lymphoma panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
139 P032 CMPN-1 Dx panel [FISH] 7 days "Heparin WB 5.0ml
Heparin BM 5.0ml"		 FISH
140 P031 CMPN Dx panel [FISH] 7 days "Heparin WB 5.0ml
Heparin BM 5.0ml"		 FISH
141 P026 ALL Dx panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
142 P025 AML 6 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
143 P359 AML 7 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
144 N048 MM Panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
145 P029 MM Dx panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
146 P027 ABL Dx panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH
147 P023 AML 10 items panel [FISH] 7 days Heparin WB 5.0ml
Heparin BM 5.0ml		 FISH

 

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