Molecular & Genomics

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Code
Test Name
Category
Method
KCL0012
3M syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of 3M syndrome; guide clinical care and familial counselling. Gene list (24): ATR, BCS1L, CCDC8, CDC45, CDC6, CDT1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C
Temperature
2-8°C
CHN0004
Acute Promyelocytic Leukemia
Molecular & Genomics
QPCR
⌄

Test Description

Monitor quantitative levels of PML/RARA transcripts; diagnose and monitor Acute Promyelocytic Leukemia (APL).
TAT
10-12 days
Specimen
3-5 mL EDTA whole blood or 10 mL for MRD
Storage Stability
2-8°C for 5 days
Temperature
2-8°C
CHN0005
Acute Promyelocytic Leukemia Bone Marrow
Molecular & Genomics
QPCR
⌄

Test Description

Quantitative monitoring of PML/RARA transcripts in bone marrow; precise monitoring of APL.
TAT
10-12 days
Specimen
3 mL EDTA Bone Marrow Aspirate
Storage Stability
2-8°C for 5 days
Temperature
2-8°C
KCL0013
Albinism, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic analysis to identify mutations causing albinism; confirm diagnosis and genetic counseling. Genelist (35): AP3B1, AP3D1, ATP7A, BLOC1S3, BLOC1S5, BLOC1S6,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0047
Alpha Thalassemia (HBA1 and HBA2 Sequencing and Deletion/Duplication)
Molecular & Genomics
MLPA
⌄

Test Description

Comprehensive sequencing and deletion/duplication analysis of alpha-thalassemia genes; precise genetic diagnosis.
TAT
18-21 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL [25 - 50 ng/µL] Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Stability
2-8°C for 30 days
Temperature
2-8°C
CHN0002
Alpha thalassemia gene analysis (HBA1 & HBA2)
Molecular & Genomics
Sanger sequencing
⌄

Test Description

Alpha thalassemia gene analysis targeting HBA1 and HBA2 identifies genetic variants responsible for reduced or absent alpha-globin production, which disrupts
TAT
21 days
Specimen
4 ml EDTA Peripheral blood; purified genomic DNA; buccal swabs (4) for patients on chemotherapy or anemic patients with a WBC count <1000/uL
Storage Stability
EDTA 15–25°C 72h; DNA 2–8°C 1 week
Temperature
20-25°C CVS at 2-8°C
KCL0014
Alzheimer, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic risk factors for Alzheimer’s disease; clinical management and familial risk. Genelist (41): A2M, ABCA7, ACE, ADAMTS13, ALOX5AP, APOE,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0016
Aortopathy, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic variants associated with hereditary aortic disorders; guide management and prevention. Genelist (63): ABCC6, ABL1, ACTA2, ADAMTSL4, ADAMTS10, ADAMTS17,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0017
Arthrogryposis, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic causes of arthrogryposis; prenatal diagnosis and genetic counseling. Genelist (107): ACTA1, AGRN, ALG14 , ALG2 , ALG3, ANTXR2,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0018
Ataxic polyneuropathies, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic causes of ataxic polyneuropathies; guide treatment and prognosis. Genelist (232): AAAS, AARS1, ABCA1, ABCD1, ABHD12, AGTPBP1, AGXT, AIFM1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0019
Autism, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic analysis for autism spectrum disorders; identify underlying genetic variants for targeted management. Genelist (417): ABCA7, ACSL4, ACTB, ACTN1, ADNP,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0020
Autosomal dominant non-syndromic hearing loss, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect autosomal dominant genetic causes of non-syndromic hearing loss; familial risk management. Genelist (46): ACTG1, CCDC50, CD164, CEACAM16, COCH, COL11A2,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0021
Autosomal dominant retinitis pIgMentosa, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify autosomal dominant mutations causing retinitis pigmentosa; familial risk counseling. Genelist (41): AIPL1, ARL3, BEST1, C1QTNF5, CA4, CRB1, CRX, EMC1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0022
Autosomal recessive non-syndromic hearing loss, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify autosomal recessive genetic mutations causing hearing loss; counseling and clinical management. Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0023
Autosomal recessive retinitis pIgMentosa, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect autosomal recessive mutations causing retinitis pigmentosa; genetic counseling and management. Genelist (80): ADCY1, BDP1, BSND, CABP2, CDC14A, CDH23, CEACAM16,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0009
B Lymphoblastic Leukemia/Lymphoma Diagnosis (BCR-ABL?p190?, Quantitative) bone marrow
Molecular & Genomics
QPCR
⌄

Test Description

Bone marrow quantitative BCR-ABL p190 for leukemia diagnosis; precise leukemia monitoring.
TAT
10-12 days
Specimen
2-3mL Bone Marrow Aspirate in EDTA Tube
Storage Stability
2-8°C for 72 hrs
Temperature
2-8°C
KCL0024
Bardet-Biedl syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose Bardet-Biedl syndrome genetically; clinical care and family counseling. Genelist (30): ALMS, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0010
BCR ABL1 p210 p190 p230 qual
Molecular & Genomics
QPCR
⌄

Test Description

Qualitative detection of BCR-ABL fusion genes; diagnose Philadelphia chromosome-positive leukemia. Do not Freeze. Must reach lab within 24hrs
TAT
10-12 days
Specimen
5mL EDTA Whole Blood
Storage Stability
2-8°C for 72 hrs
Temperature
2-8°C
CHN0051
Beta Thalassemia (HBB Deletion/Duplication)
Molecular & Genomics
Multiplex Ligation Probe Amplification (mLPA)
⌄

Test Description

Identify deletions/duplications in beta-globin gene; diagnose beta-thalassemia.
TAT
2-3 weeks
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL [25 - 50 ng/µL] Lavender-top (EDTA) tube or yellow-top (ACD) tube
Storage Stability
2-8°C for 30 days
Temperature
2-8°C
CHN0001
Beta thalassemia (HBB) gene analysis
Molecular & Genomics
Sanger sequencing
⌄

Test Description

Beta thalassemia (HBB) gene analysis is a molecular genetic test that sequences the HBB gene to identify mutations responsible for
TAT
21 days
Specimen
4 ml EDTA Peripheral blood; purified genomic DNA; buccal swabs (4) for patients on chemotherapy or anemic patients with a WBC count <1000/uL
Storage Stability
EDTA 15–25°C 72h; DNA 2–8°C 1 week
Temperature
20-25°C CVS at 2-8°C
KCL0093
Charcot-Marie-Tooth disease, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (134): AARS1, ABHD12, AIFM1, ARHGEF10, ASAH1, ATL1, ATL3, ATP1A1, ATP7A, BAG3, BICD2, BSCL2, CADM3, CCT5, CNTNAP1, COA7, COX6A1, CTDP1,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
RFD0001
Chromosomal Analysis (Karyotyping)-Blood
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
2-3 weeks
Specimen
Heparin Blood
Storage Stability
15–25°C
Temperature
15-25°C
RFD0002
Chromosomal Analysis (Karyotyping)-Bone Marrow
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
2-3 weeks
Specimen
BMA
Storage Stability
15–25°C
Temperature
15-25°C
RFD0005
Chromosomal Analysis (Karyotyping)-Fanconi’s Anemia
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
2-3 weeks
Specimen
Heparin Blood/BMA
Storage Stability
15–25°C
Temperature
15-25°C
RFD0009
Chromosomal Analysis (Karyotyping)-For Cell culture
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
10-12 days
Specimen
Cultured cells
Storage Stability
2–8°C
Temperature
2-8°C
RFD0006
Chromosomal Analysis (Karyotyping)-For Fragile X
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
2-3 weeks
Specimen
Heparin Blood
Storage Stability
15–25°C
Temperature
15-25°C
RFD0008
Chromosomal Analysis (Karyotyping)-For Harvested Lymphocytes
Molecular & Genomics
GTG-Banding/Karyotyping
⌄

Test Description

This test is typically used to identify chromosomal abnormalities, such as extra or missing chromosomes, or structural changes in chromosomes
TAT
2-3 weeks
Specimen
The sample is often preserved in a special transport medium to ensure cell viability, such as RPMI medium (a type of cell culture medium) or saline solution.
Storage Stability
2–8°C
Temperature
2-8°C
KCL0011
Clinical WGS diagnostic
Molecular & Genomics
NGS
⌄

Test Description

Next Generation Sequencing ;This test is recommended for patients with medical or family histories indicating a potential genetic cause for
TAT
4-5 weeks
Specimen
Single EDTA tube with 2.5 ml of peripheral blood or 1 microgram (50 ng/µl) of extracted DNA in a sealed sterile 1.5 ml tube.
Storage Stability
2–8°C
Temperature
Blood in EDTA tube-Cold chain (4 to 8 degree); Extracted DNA -Room temperature
KCL0026
Cone-rod dystrophy, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of cone-rod dystrophy; clinical management of vision impairment. Genelist (52): ABCA4, ADAM9, ADAMTS18, AIPL1, ARHGEF18, ATF6, BEST1, CABP4,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0094
Congenital disorders of glycosylation (CDG), NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (179): A4GALT, ALDOB, ALDOC, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG5, ALG6, ALG8, ALG9, ARCN1, ARV1, ATP6AP1, ATP6AP2,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µl Lavender-top (EDTA) tube
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0027
Cornelia de Lange syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose Cornelia de Lange syndrome genetically; clinical management and prognosis. Genelist (45): ADNP, AFF4, ANKRD11, ARHGAP31, ARID1A, ARID1B, ASXL1, ASXL3,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0028
Craniosynostosis syndromes, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants related to craniosynostosis; guide surgical interventions and counseling. Genelist (92): ABCC9, ADAMTSL4, ALPL, ALX1, ALX3, ALX4, ASXL1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0030
Diabetes mellitus monogenic NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants causing monogenic diabetes; personalized diabetes management.
TAT
30 days
Specimen
3 mL EDTA whole blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0029
Diabetes mellitus monogenic NGS-Diabetes-Obesity Panel
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants causing monogenic diabetes; precise diagnosis and treatment. Genelist (71): ABCC8, AGPAT2, AIRE, AKT2, APPL1, BLK, C10orf67, CDKN1C,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0031
Diabetes mellitus permanent neonatal, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic causes of permanent neonatal diabetes; inform clinical management. Genelist (40): ABCC8, AIRE, CNOT1, C10orf67, CP, EIF2B1, EIF2S3, EIF2AK3,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0095
Disorders of sex development (DSD), NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (190): AKR1C2, AKR1C4, AMH, AMHR2, ANOS1, AR, ARL6, ARX, ATF3, ATRX, B3GLCT, B9D1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µl Lavender-top (EDTA) tube
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0032
Dystonia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations causing dystonia; precise diagnosis and tailored therapy. Genelist (232): AARS1, AARS2, ACTB, ACY1, ADAR, ADCY5, AFG3L2, ALS2,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0033
Ectodermal dysplasia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of ectodermal dysplasia; guide clinical management. Genelist (106): ANTXR1, APCDD1, AR, ATP7A, AXIN2, BANF1, BCS1L, BMP4, CDH3, CDSN,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0034
Ehlers-Danlos syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants causing Ehlers-Danlos syndrome; management of connective tissue disorder. Genelist (65): ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6AP1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0035
Epilepsy metabolic, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations causing metabolic epilepsy; targeted therapeutic strategies. Genelist (116): ACO2, ALDH4A1, ALDH5A1, ALDH7A1, AP4M1, APTX, ARG1, ARSA, ASAH1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0036
Epilepsy, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic mutations linked to epilepsy; facilitate diagnosis, prognosis, and treatment planning. Genelist (1226): AARS, AARS1, AASS, ABAT, ABCA2, ABCC8,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0023
Exome Sequencing Data Reanalysis
Molecular & Genomics
Data Analysis
⌄

Test Description

Re-analysis of previously obtained exome sequencing data; identify novel diagnostic insights.
TAT
2-3 weeks
Specimen
N/A
Storage Stability
N/A
Temperature
N/A
KCL0037
Familial hemophagocytic lymphohistiocytosis, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic causes of familial hemophagocytic lymphohistiocytosis; guide urgent treatment. Genelist (43): ADA, AP3B1, AP3D1, BLOC1S6, BTK, CD27, CD70, CORO1A,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0038
Familial Hypercholesterolemia NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations linked to familial hypercholesterolemia; cardiovascular risk assessment. Genelist (4): APOB, LDLR, LDLRAP1, PCSK9
TAT
30 days
Specimen
3 mL EDTA whole blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0096
Familial Hypoglycemia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (172): AAAS, ABCC8, ABCD1, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACAT2, ACSF3, ADK, AGL, AKT2, AKT3, ALDH7A1, ALDOA, ALDOB,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µl Lavender-top (EDTA) tube
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0007
Full Single Gene analysis by NGS
Molecular & Genomics
NGS
⌄

Test Description

Depends on gene selection
TAT
30 days
Specimen
4 ml EDTA Peripheral blood; purified genomic DNA; buccal swabs (4) for patients on chemotherapy or anemic patients with a WBC count <1000/uL
Storage Stability
EDTA 20–25°C 72h; CVS/Amnio 2–8°C 48h; DNA 2–8°C 1 week
Temperature
20-25°C CVS at 2-8°C
X0L0007
GenoSafe (NIPT Basic)
Molecular & Genomics
NGS
⌄

Test Description

Cell-free DNA test through maternal blood to screen for aneuploidy involving chromosomes 13, 18, 21 in addition to Sex chromosome
TAT
7 days
Specimen
8-10 ml Mothers peripheral blood-cell free DNA
Storage Stability
20–25°C for up to 7 days
Temperature
20-25°C
X0L0008
GenoScan (NIPT Extended)
Molecular & Genomics
NGS
⌄

Test Description

Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 set of chromosome, fetal gender is included.
TAT
7 days
Specimen
8-10 ml Mothers peripheral blood-cell free DNA
Storage Stability
20–25°C for up to 7 days
Temperature
20-25°C
KCL0040
Glaucoma, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations associated with glaucoma; precise diagnosis and management. Genelist (55): ACVR1, ADAMTS10, ASB10, ATOH7, BEST1, BMP4, CA4, CANT1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0097
Growth Hormone Deficiency, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (11): BTK, GH1, GHR, GHRHR, GHSR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0041
Hemolytic-uremic syndrome atypical, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic analysis for atypical hemolytic-uremic syndrome; targeted clinical intervention. Genelist (29): ADAMTS13, C3, CD46, CD59, CFB, CFD, CFH, CFHR1, CFHR2,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0026
Hereditary Hemochromatosis, DNA Analysis
Molecular & Genomics
Real-Time PCR
⌄

Test Description

Genetic testing for hereditary hemochromatosis; diagnosis and management of iron overload disorders.
TAT
10-12 days
Specimen
3mL EDTA whole blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0056
HLA A, B, C, DRB1, DRB345, DQA1, DQB1, DPA1, DPB1 High Resolution NGS Typing
Molecular & Genomics
Long-Read Next Generation Sequencing
⌄

Test Description

Pre-haematopoietic stem cell transplant for both donor and recipient. Post- haematopoietic stem cell transplant for the recipient. Pre-solid organ transplantation
TAT
2-3 weeks
Specimen
1 mL EDTA or ACD Whole blood or extracted frozen DNA with a concentration of at least 30 ng/µL.
Storage Stability
Room temperature 2 days
Temperature
Room temperature
CHN0057
HLA B*15:021118 High Resolution
Molecular & Genomics
PCR reverse sequence specific oligonucleotide probes (rSSOP) with Luminex? flow technology
⌄

Test Description

Screens for risk of severe skin reactions to carbamazepine.
TAT
10-12 days
Specimen
1 mL EDTA or ACD Whole Blood
Storage Stability
Room temperature 2 days
Temperature
Room temperature
CHN0058
HLA B27 Screen
Molecular & Genomics
Flow Cytometry
⌄

Test Description

Genetic test for HLA-B27. Strongly associated with ankylosing spondylitis.
TAT
5-7 days
Specimen
1 mL EDTA or ACD Whole Blood
Storage Stability
2-8°C for 2 days
Temperature
2-8°C
CHN0059
HLA B27 Screening and Confirmatory
Molecular & Genomics
Flow Cytometry followed by PCR reverse sequence specific oligonucleotide probes (rSSOP) with Luminex? flow technology
⌄

Test Description

Genetic test associated with ankylosing spondylitis and other autoimmune diseases.
TAT
2-3 weeks
Specimen
1 mL EDTA or ACD Whole Blood
Storage Stability
Room temperature 2 days
Temperature
Room temperature
CHN0060
HLA-B*51 Typing
Molecular & Genomics
PCR reverse sequence specific oligonucleotide probes (rSSOP) with Luminex? flow technology
⌄

Test Description

Detects HLA-B51 allele, associated with Behcet’s disease.
TAT
10-12 days
Specimen
1 mL EDTA or ACD Whole Blood
Storage Stability
Room temperature 2 days
Temperature
Room temperature
KCL0043
Ichthyosis and related disorders of cornification, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnosis of ichthyosis and disorders of cornification; genetic counseling and clinical care. Genelist (89): AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0044
Ichthyosis congenital, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic confirmation of congenital ichthyosis; diagnosis and prognosis. Genelist (13): ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
X0L0009
InsightScan (NIPT Advance)
Molecular & Genomics
NGS
⌄

Test Description

Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 chromosomes in addition to Sex chromosome aneuploidies
TAT
7 days
Specimen
8-10 ml Mothers peripheral blood-cell free DNA
Storage Stability
20–25°C for up to 7 days
Temperature
20-25°C
X0L0010
InsightScan + (NIPT Advance Plus)
Molecular & Genomics
NGS
⌄

Test Description

Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 chromosomes in addition to Sex chromosome aneuploidies
TAT
7 days
Specimen
8-10 ml Mothers peripheral blood-cell free DNA
Storage Stability
20–25°C for up to 7 days
Temperature
20-25°C
KCL0045
Joubert syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect mutations causing Joubert syndrome; genetic diagnosis and family counseling. Genelist (46): AHI1, ARL3, ARL13B, ARMC9, B9D1, B9D2, CFAP410, CPLANE1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0046
Kartagener syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of Kartagener syndrome; treatment planning and genetic counseling. Genelist (2): DNAI1, DNAH5
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0035
Known familial variant analysis (Two exons sequencing)
Molecular & Genomics
DNA Sequencing
⌄

Test Description

Analyze two exons for known familial genetic variants; precise familial risk assessment.
TAT
2-3 weeks
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 30 days
Temperature
2-8°C
KCL0098
Leigh syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (104): AIFM1, ALDH5A1, ARX, ATP5MD, BCS1L, BTD, CLPB, COA5, COQ9, COX10, COX14, COX15, COX6B1, COX8A, CPT2, DLAT, DLD, DNM1L,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0047
Leukodystrophy, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations causing leukodystrophy; clinical management and prognosis. Genelsit (535): AARS1, AARS2, ABAT, ABCA1, ABCD1, ACADS, ACBD5, ACER3, ACOX1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0099
Limb-girdle muscular dystrophy (LGMD), NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (68): ANO5, B3GALNT2, BICD2, BVES, CAPN3, CAV3, CHKB, COL4A1, COL4A2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0048
Lissencephaly, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect mutations related to lissencephaly; guide diagnosis and treatment planning. Genelist (63): ACTB, ACTG1, ADGRG1, APC2, ARX, ATP6V0A2, B3GALNT2, B4GAT1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0049
Long QT syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of long QT syndrome; manage risk of arrhythmias and sudden death. Genelist (44): ABCC9, AKAP9, ALG10B, ANK2, CACNA1C,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0100
Lysosomal disorders, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (68): ANO5, B3GALNT2, BICD2, BVES, CAPN3, CAV3, CHKB, COL4A1, COL4A2, CRPPA, CRYAB, DAG1, DES, DMD, DNAJB6, DPM3, DYSF, FKRP,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0050
Macrocephaly, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants associated with macrocephaly; differential diagnosis and counseling. Genelist (205): ABCC9, ADK, AKT1, AKT2, AKT3, ANKH, APC2, ARSB,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0051
Marfan syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of Marfan syndrome; clinical management and surveillance strategies. Genelist (55): ABL1, ACTA2, ADAMTS10, ADAMTS17, ADAMTSL2, ADAMTSL4, AEBP1, B3GAT3,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0052
Maturity onset diabetes of the young (MODY) NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic mutations associated with MODY; precise diagnosis and tailored diabetes management.
TAT
30 days
Specimen
3mL EDTA Whole blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0053
Microcephaly (PCNT)
Molecular & Genomics
NGS
⌄

Test Description

Specific genetic diagnosis for microcephaly due to PCNT mutations.
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0054
Microcephaly, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic causes of microcephaly; genetic diagnosis and counseling. Genelist (546): AAAS, AARS, ACADSB, ACD, ACE, ACO2, ACSL4, ACTB, ADAR,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0055
Micromelic Dysplasia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose micromelic dysplasias genetically; prenatal diagnosis and genetic counseling. Genelist (31): ADAMTS10, ADAMTS17, ADAMTSL2, BMPR1B, DVL1, DVL3, EXT1, FBN1, FGFR3,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0101
Muscular Dystrophies Congenital, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (50): ANO5, B3GALNT2, B4GAT1, CAVIN1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, CRPPA, DAG1, DMD, DNM2, DPM1, DPM2, DPM3, DYSF, EMD,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0102
Myopathy Distal, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (34): ADSS1, AGL, AGRN, ANO5, BAG3, BICD2, CAPN3, CAV3, CCDC78, CHRNA1, CHRNB1, CHRND, CHRNE, CRYAB, DES, DNAJB6, DNM2, DYSF,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0059
Nephrocalcinosis, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic causes of nephrocalcinosis; guide management and prognosis. Genelist (54): ADCY10, AGXT, ALPL, AMMECR1, AP2S1, APRT, ATP6V0A4, ATP6V1B1, ATP7B,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0060
Nephronophthisis, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose nephronophthisis genetically; management of progressive kidney disease. Genelist (36): ADAMTS9, AHI1, ANKS6, CC2D2A, CEP164, CEP290, CEP41, CEP83, DCDC2, FAN1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0061
Nephrotic syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of nephrotic syndrome; tailored clinical management and counseling. Genelist (145): ABCC6, ACE, ACTN4, ADCK4, ADGRE1, ALDH1A2, ALG1, ALMS1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0062
Neuronal Migration Disorder, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose genetic causes of neuronal migration disorders; guide patient care and prognosis. Genelist (570): ABAT, ACTB, ACTG1, ACVR1, ADAR, ADAT3,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0063
Noonan/CFC/Costello, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose Noonan, CFC, and Costello syndromes; management strategies and genetic counseling.
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0064
Obesity, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic factors contributing to obesity; personalized therapeutic approaches. Genelist (59): ADCY3, AFF4, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0065
Osteogenesis imperfecta, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic identification of osteogenesis imperfecta; inform clinical management. Genelist (42): ALPL, ANO5, ARCN1, B3GAT3, B3GALT6, B4GALT7, BMP1, CCDC134, CLCN5, COL1A1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0066
Parkinson Disease, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of Parkinson’s disease; inform treatment decisions and familial risk. Genelist (116): ADAMTS13, ADH1C, ADORA1, AFG3L2, APOA1BP, APOE, APP,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0067
Periodic Fever Syndromes/Autoinflammation, NGS
Molecular & Genomics
NGS
⌄

Test Description

Detect genetic causes of periodic fever syndromes and autoinflammatory diseases; targeted treatment. Genelist (154): ACP5, ADA, ADA2, ADAM17, ADAR, AICDA,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0006
Precision Diagnostic Panels available for all Therapeutic areas.
Molecular & Genomics
NGS
⌄

Test Description

Depend on the panel selections
TAT
30 days
Specimen
4 ml EDTA Peripheral blood; purified genomic DNA; buccal swabs (4) for patients on chemotherapy or anemic patients with a WBC count <1000/uL
Storage Stability
EDTA 20–25°C 72h; CVS/Amnio 2–8°C 48h; DNA 2–8°C 1 week
Temperature
20-25°C CVS at 2-8°C
KCL0070
Primary ciliary dyskinesia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic confirmation of primary ciliary dyskinesia; diagnosis and clinical management.
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0065
Rapid HLA A, B, C, DRB1, DRB345, DQA1, DQB1, DPA1, DPB1 Typing Low Resolution
Molecular & Genomics
Real-Time Quantitative PCR Sequence Specific Primers (SSP) with hydrolysis probes OR Real-Time Quantitative PCR SSP
⌄

Test Description

Performs low-resolution HLA typing for transplant compatibility. Used for rapid donor-recipient matching.
TAT
10-12 days
Specimen
1 mL EDTA or ACD Whole Blood
Storage Stability
Room temperature 2 days
Temperature
Room temperature
KCL0072
Retinitis Pigmentosa NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic variants associated with retinitis pigmentosa; precise genetic diagnosis of vision disorders.
TAT
30 days
Specimen
3 mL EDTA whole blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0073
Retinitis Pigmentosa NGS – Eye Disorder Panel
Molecular & Genomics
NGS
⌄

Test Description

Comprehensive genetic screening for retinitis pigmentosa; precise diagnosis and prognosis. Genelist (167): ABCA4, ABHD12, ACO2, ADAM9, ADGRA3, ADGRV1, AGBL5, AHI1,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0103
Spastic Paraplegia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (136): ABCD1, ACO2, ADAR, AFG3L2, ALDH18A1, ALS2, AMPD2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARL6IP1, ARSI, ATAD3A, ATL1, ATL3,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0074
Spherocytosis hereditary, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic causes of hereditary spherocytosis; facilitate precise clinical management. Genelist (8): ANK1, EPB41, EPB42, RHAG, SLC4A1, SPTA1, SPTB, PIEZO1
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0092
Spinal Muscular Atrophy Distal, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genelist (48): AARS1, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCAF8, DCTN1, DNAJB2, DNMT1, DYNC1H1, EMILIN1, EXOSC3, EXOSC8, EXOSC9, FBXO38, FIG4,
TAT
30 days
Specimen
5-7 mL whole blood OR DNA ≥ 100 µL Lavender-top (EDTA) tube Peripheral Blood
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0075
Spondylometaphyseal Dysplasia and Spondyloepiphyseal Dysplasia, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnosis of skeletal dysplasias via genetic analysis; targeted management and genetic counseling. Genelist (66): ACAN, ACP5, ATP7A, B3GALT6, B3GAT3, BGN,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0077
Waardenburg Syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose Waardenburg syndrome genetically; clinical management and family counseling. Genelist (9): EDN3, EDNRB, KIT, KITLG, MITF, PAX3, SNAI2, SOX10, TYR
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0078
Warburg-Micro Syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Identify genetic mutations causing Warburg-Micro syndrome; targeted care and genetic counseling. Genelist (4): RAB3GAP1, RAB18, RAB3GAP2, TBC1D20
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0001
WES – SINGLE (one sample, index proband patient)
Molecular & Genomics
NGS
⌄

Test Description

Next Generation Sequencing (NGS); This test is recommended for patients with medical or family histories indicating a potential genetic cause
TAT
4-5 weeks
Specimen
Single EDTA tube with 2.5 ml of peripheral blood or 1 microgram (50 ng/µl) of extracted DNA in a sealed sterile 1.5 ml tube.
Storage Stability
Blood in EDTA tube-Cold chain (4 to 8 degree); Extracted DNA -Room temperature
Temperature
Blood in EDTA tube-Cold chain (4 to 8 degree); Extracted DNA -Room temperature
KCL0003
WES – TRIO (index patient and family members, specially consanguineous couples)
Molecular & Genomics
NGS
⌄

Test Description

Next Generation Sequencing (NGS); Trio testing involves analyzing the genetic information of a child alongside their biological parents. This approach
TAT
4-5 weeks
Specimen
Single EDTA tube with 2.5 ml of peripheral blood or 1 microgram (50 ng/µl) of extracted DNA in a sealed sterile 1.5 ml tube.
Storage Stability
Blood in EDTA tube-Cold chain (4 to 8 degree); Extracted DNA -Room temperature
Temperature
Blood in EDTA tube-Cold chain (4 to 8 degree); Extracted DNA -Room temperature
KCL0079
Wiskott-Aldrich syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose Wiskott-Aldrich syndrome genetically; clinical intervention and family planning. Genelist (2): WAS, WIPF1
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0080
X-linked mental retardation, NGS
Molecular & Genomics
NGS
⌄

Test Description

Diagnose genetic causes of X-linked intellectual disability; precise diagnosis and genetic counseling. Genelist (161): ABCD1, ACSL4, AFF2, AGTR2, AIFM1, ALG13,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
CHN0003
Y Chromosome Microdeletion Analysis
Molecular & Genomics
PCR
⌄

Test Description

Detect Y chromosome deletions; male infertility evaluation.
TAT
2-3 weeks
Specimen
5 Ml Lavender-top (EDTA) tube Whole Blood in Lavender-top (EDTA) tube
Storage Stability
2-8°C for 7 days
Temperature
2-8°C
KCL0081
Zellweger syndrome, NGS
Molecular & Genomics
NGS
⌄

Test Description

Genetic diagnosis of Zellweger syndrome; family counseling and clinical management. Genelist (33): ABCD1, ABCD3, ACAA1, ACBD5, ACOX1, AGPS, AGXT, AMACR,
TAT
30 days
Specimen
5-7 mL EDTA whole blood OR DNA ≥ 100 µL
Storage Stability
2-8°C for 7 days
Temperature
2-8°C