CodeTest NameDescriptionMethodology
A002Basic Prevention-CECBC/Hb typing (CE)/PCR for SEA and THAICBC,Hb-typing and DNA test
A007Comprehensive PreventionCBC/Hb typing(CE) and PCR for 8 alpha-globin deletion
and 6 non-deletion sets		CBC, Hb-typing and DNA test
A008Premium Prevention*CBC/Hb typing(CE) and PCR for alpha-globin 8 deletions
and 6 non-deletions set, Advanced beta-globin ARMS-PCR
(16 mutations) , beta-globin deletion set (10 deletions),
alpha-globin triplication set (3.7/4.2 type)		CBC, Hb-typing and DNA test
A009Complete Diagnostic Package*CBC /Hb typing(CE) and PCR for alpha-globin 8 deletions
and 6 non-deletions set, PCR foralpha-globin triplication
set (3.7/4.2 type), Advanced beta-globin ARMS-PCR
(16 mutations), beta-globin deletion set (10 deletions),
Sequencing whole beta-globin genes if necessary (2.8 kb),
Sequencing whole alpha-globin genes (1.2 kb) if necessary		CBC, Hb-typing and DNA test
B001PCR for SEA deletion–SEAGap-PCR
B002PCR for SEA and THAI deletions— SEA and — THAIGap-PCR
B003PCR for 3.7+4.2 deletions-a3.7 and -a4.2Gap-PCR
B004PCR for a-globin deletion set (8
deletions)		: –SEA, –Siam ,–THAI, –FIL, — MED, -a20.5, -a3.7, -a4.2Gap-PCR
B005PCR for a-globin non-deletion set
(6 mutations)		CD59, Hb Constant Spring, Hb Pakse, CD30, initiation
codon, Hb Quong Sze		ARMS-PCR
B006PCR for common a-globin
mutations		–SEA, –Siam ,–THAI, –FIL, — MED, -a20.5, -a3.7,- a4.2 , Hb
Constant Spring, HbPakse		Gap-PCR, ARMS- PCR
B007Combo-set (8 deletions + 6
mutations)		: –SEA, –Siam ,–THAI, –FIL, — MED, -a20.5, -a3.7, -a4.2,
CD59, Hb Constant Spring, Hb Pakse, CD30, initiation
codon, Hb Quong Sze		Gap-PCR, ARMS- PCR
B008PCR for Common a-globin-1–SEA, –Siam, –THAI, –FIL, — MED, -a20.5Gap-PCR
B009PCR for SEA, THAI, 3.7 and 4.2
deletions		–SEA, –THAI, -a3.7, – a4.2Gap-PCR
B010PCR for alpha- thal 2 gene ; (-a3.7,
a4.2, Hb CS and HbPS)		-a3.7, a4.2, Hb CS and HbPSGap-PCR, ARMS-PCR
B011a-globin ARMS for Hb CS + Hb PSHb CS and Hb PSARMS-PCR
B012Hemoglobin Pak Num PoHb Pak Num Po mutationARMS-PCR
B013Abnormal Hb LansingConfirm abnormal Hb with low pulse oximetryPCR-RFLP
B014Sequencing whole a-globin genesalpha 1 and alpha 2 globin genesDirect whole gene sequence
B015Sequencing Alpha1-globin genes1.4 kb of Alpha1-globin genesSanger sequencing
B016Sequencing Alpha2-globin genes1.3 kb of Alpha2-globin genesSanger sequencing
B017PCR for common a-Thal1 and
a-Thal2 genes		–SEA, –THAI, -a3.7, -a4.2, Hb Constant Spring, HbPakseGap-PCR, ARMS-PCR
C001Basic b-globin ARMS
(10 mutations)(แนบผล Hb typing)		: -28, CD8/9(+G), CD17(A-T), IVSI-I(GT), IVSI-5,(G-C), CD26(HbE), CD41/42(- TCTT), CD71/72(A+) , IVSII-654(G-T), -3.48 kbARMS- PCR
C002Advanced beta-globin ARMS-PCR
(16 mutations)(แนบผล Hb typing)		: -28, CD8/9, CD 17, CD 19, CD26 (Hb E), CD 26 G>T (stop
codon), CD27/28, IVSI-I, IVSI-5, CD 35, CD 41, CD41/42, CD43,
CD 71/72, CD 95 and IVSII-654		ARMS- PCR
C003Advanced beta-globin ARMS-PCR
(25 mutations)(แนบผล Hb typing)		: -28 , CD8/9, CD 17 , CD 19, CD26 (Hb E), CD 26 G>T (stop codon), CD27/28,
IVSI-I, IVSI-5, CD 35, CD 41, CD41/42 , CD43, CD 71/72, CD 95, IVSII-654 ,619,
-3.48 kb, FIL deletion(b0), -90, -87, -86, -50, -31, b126 (Dhonburi)		ARMS-PCR, GAP-PCR
C004Advanced beta-globin ARMSPCR (32 mutations)
(แนบผล Hb typing)		: -28, CD8/9(+G), CD17(A-T), IVSI-I(GT), IVSI-5(G-C), CD26(HbE), CD41/42(- TCTT), CD71/72(A+) , IVSII-654(G-T) 3.4-kb
deletion CD95(+A), CD43(G>T), CD35(C>A), CD26(G>T),
CD19 (Hb Malay) CD27/28(+C), CD41(-C), CD15(G>A), -86,
CD126 Hb Dhonburi, CD123-125 HbD Khonkean, 619bp, SEA
HPFH, Filipino, HbLepore, Asian Indian deletions inversion,
Chinese, HPFH-6, Thai((δb°), Siriraj-thalassemia		ARMS-PCR, GAP-PCR and
Sanger Sequencing
C006Sequencing whole b-globin genes2.8 kb of beta-globin genesDirect whole gene sequence
C007b-globin deletion set (10 deletions)
(แนบผล Hb typing)		619bp, 3.48 kb, SEA HPFH, Filipino, HbLepore, Asian Indian
deletions inversion, Chinese, HPFH-6,Thai(δb)°,
Siriraj-thalassemia		Gap-PCR
D001a-globin triplication set (3.7/4.2)
type		anti3.7 /aa and anti4.2/aaGap-PCR
D002b-globin MLPACoverage for 80 kb of beta-globin gene clusterMLPA (MRC-Holland)
D003a-globin MLPACoverage for 42 kb of alpha-globin gene clusterMLPA (MRC-Holland)
D004b-globin haplotypeDetection of 8 common SNPs on beta-globin gene clusterPCR-RFLP
D005a-globin haplotypeDetection of 7 common SNPs and STR on a-glphalobin
gene cluster		PCR-RFLP
D006Xmn I SNPDetection of high HbF SNPPCR-RFLP
D009g-globin gene sequencingPromoter and 3 exonsSanger Sequencing
D010d-globin gene sequencingAll 4 exons cover 1.3 kbSanger Sequencing
D011e-globin gene sequencingAll 3 exonsSanger Sequencing
D012MnLI SNP for Hb E testingAnalysis for homo- or heterozygosity of Hb E mutationPCR-RFLP
D016Hb HopeHb HopePCR-RFLP
D017Acl I for Hb CS testingAnalysis for homo- or heterozygosity of Hb CS mutationPCR-RFLP
E004Comprehensive prevention
for couple at risk assessment
Package*		CBC, Hb typing CE, PCR for 8 alpha-globin deletion and 6
non-deletion set		Comprehensive molecular
testings
E005Premium prevention for couple at
risk assessment Package*		CBC, Hb typing (CE), PCR for 8 alpha-globin deletion and 6
non-deletion set, Advanced beta-globin ARMS-PCR (16 mutations), beta-globin deletion set (10 deletions), alpha-globin
triplication-set (3.7/4.2 type)		Comprehensive molecular
testings
E007PND for Alpha thalassemia00Analysis for common alpha-globin mutationsGap-PCR, ARMS-PCR
E008PND for Beta thalassemiaAnalysis for common beta-globin mutationsGap-PCR, ARMS-PCR
G001Spectrin mutation panels (alpha
and beta spectrin)		3 alpha spectrin mutations : Lely, Yangon, Leon and 3 beta
spectrin mutations : Bangkok, THAI and Buffalo		PCR-RFLP
G003KLF-1 (Kruppel-Like Factor 1)geneKLF-1 direct sequencing for 3 exonsSanger Sequencing
G019Spectrin alpha3 alpha spectrin mutations : Lely, Yangon, LeonPCR-RFLP
G020Spectrin beta3 beta spectrin mutations : Bangkok, THAI and BuffaloPCR-RFLP
J012HLA mathchingAssessment of microsatellite markers on chromosome 6
along the HLA complex.		Fragment analysis of microsatellite markers on Chromosome 6
O003Pre- PGD diagnosis for thalassemia
package A การตรวจยืนยัน mutation ใน
พ่อและ แม่ และตรวจหา genetic markers
สำหรับ PGD
**ในกรณีที่ “ไม่มีผล ” Thalassemia
Molecular Mutation		Complete thalassemia diagnosis package with STR marker on Chr. 16 (3 sites) or Chr. 11 (3 sites)Various molecular tools
O004Pre- PGD diagnosis for thalassemia
package B การตรวจยืนยัน mutation
ใน พ่อและ แม่ และ ลูกที่เป็นโรคและตรวจหา
genetic markers สำหรับ PGD เพื่่อทำการ match HLA		Complete thalassemia diagnosis package with STR marker
on Chr. 16 or Chr. 11 and STR marker on Chr. 6 for HLA linkage		Various molecular tools
O005PGD diagnosis for thalassemiaand
HLA typing		Blastomere/Trophectoderm Biopsy cellVarious molecular tools
O006PGD diagnosis for thalassemia
and HLA typinggenetic disease
(1 mutation)		Blastomere/Trophectoderm Biopsy cellVarious molecular tools and HLA
typing for PGD
O007Pre-PGD diagnosis for specific
genetic disease (1 mutation)		Tailor made service for genetic diagnosis in carriers
(couple at risk)		Various molecular tools
O010Pre-PGD diagnosis for
thalassemia package A การตรวจ
ยืนยัน mutation ใน พ่อและ แม่ และตรวจ
หา genetic markers
**ในกรณีที่ “มีผล ” Thalassemia
Molecular Mutation		STR marker on Chr. 16 (3 sites) or Chr. 11 (3 sites)Various molecular tools
O011Legal Paternity testing (for mother,
child and alleged father)		16 STR lociMultiplex-STR
O012Legal Paternity testing
(child and alleged father)		16 STR lociMultiplex-STR
O013Paternity testing (Not for legal
use)		6 STR lociMultiplex-STR
O014PGD diagnosis for specific genetic
disease (1 mutation)		Blastomere/Trophectoderm Biopsy cellVarious molecular method
O016Preimplantation genetic screening
(PGS) for aneuploidy screening		Blastomere/Trophectoderm Biopsy cellNext generation sequencing
(NGS)
O017Preimplantation genetic screening
(PGS) for aneuploidy screening
Premium service		Blastomere/Trophectoderm Biopsy cellNext generation sequencing
(NGS)
O021Platinum service Preimplantation
genetic screening (PGS) for aneuploidy screening		Blastomere/Trophectoderm Biopsy cellNext generation sequencing
(NGS)
O024Pre-PGD for genetic disease + HLATailor made service for genetic diagnosis and STR marker
on Chr. 6 for HLA linkage		Various molecular tools
O025PGD for genetic disease + HLABlastomere/Trophectoderm Biopsy cellVarious molecular tools and HLA
typing for PGD
P010Hemoglobin typingHemoglobin typing for NewbornHb typing CE
P085Chromosome karyotype by
Next-generation sequencing
(NGS)		Chromosome karyotype by NGS includes the study of uniform aneuploidies, small deletions/duplications (Del/Dup≥10
Mb), and mosaicism.		Next-generation sequencing
(NGS)
R001NB-1: Expended Newborn
Screening+Congenital Hypothyrodism(CH)		42 common inborn error of metabolism diseases with CHTandem Mass Spectrometry
(MS/MS) and Immunoassay
R002NB-2: NB-1 + THALASSEMIA42 common inborn error of metabolism diseases with CH
and thalassemia disease and carriers		Tandem Mass Spectrometry/
Immuno assay/Hb typing CE
R003Newborn screening for
thalassemia CE		Validated hemoglobin testing in neonatesHb typing CE
R009Comprehensive Metabolic TestDiagnostic evaluation for common metabolic diseasesTandem Mass Spectrometry