List of services 2021-2022

S.no.

Test

Test Code

Gene/Mutation

TAT

Next Generation Sequencing

1

Exome sequencing* (Singleton, CREV3 capture kit)

WES001

8 weeks

2

Exome sequencing* (Singleton, TWIST capture kit) (please use this test only for well-defined phenotypes)

WES002

8 weeks

3

Carrier testing by duo exome sequencing* (CREV3 capture kit)

DES001

8 weeks

4

Carrier testing by duo exome sequencing* (TWIST capture kit)

DES002

8 weeks

5

Trio exome sequencing* (CREV3 capture kit)

TES001

8 weeks

6

Trio exome sequencing* (TWIST capture kit)

TES002

8 weeks

* including segregation of shortlisted variants by Sanger sequencing in the family

Mutation analysis for specific diseases (targeted variants) by Sanger sequencing

7

Targeted mutation analysis of Achondroplasia

ACH001

FGFR3 (c.1138G>A and c.1138G>C)

1 week

8

Targeted mutation analysis of Hypochondroplasia

HCH001

FGFR3 (c.1620C>A and c.1620C>G)

1 week

9

Targeted mutation analysis of Apert syndrome

APT001

FGFR2 (c.755_756delCGinsTT, c.755C>G,
c.756_758delGCCinsCTT and c.758C>G)

1 week

10

Targeted mutation analysis of Sickle cell disease

SCD001

HBB (c.20A>C)

1 week

11

Targeted mutation analysis of Thanatophoric dysplasia type I

TDY001

FGFR3 (c.742C>T and c.1118A>G)

1 week

12

Targeted mutation analysis of Thanatophoric dysplasia type II

TDY002

FGFR3 (c.1948A>G and c.1949A>T)

1 week

13

Targeted mutation analysis of Factor V Leiden mutation

FVL001

F5 (c.1601G>A)

1 week

14

Targeted mutation analysis of any common single variant

TMA001

1 week

15

Targeted mutation analysis of any unique single variant

TMA002

1 week

Mutation analysis for specific monogenic diseases (full gene analysis) by Sanger sequencing

16

Mutation analysis of Gilbert syndrome and Crigler-Najjar syndrome

GCN001

UGT1A1 (sequencing includes regulatory, promoter, exonic and flanking intronic regions of UGT1A1)

2 weeks

17

Mutation analysis of beta thalassemia (sequencing the coding regions and including 619 bp deletion detection, sequencing of reported variants in promoter and intronic regions as necessary)

HBB001

HBB

10 days

18

Mutation analysis of Rett syndrome

RET001

MECP2

2 weeks

19

Mutation analysis of Oculocutaneous albinism type I

OCA001

OCA1

2 weeks

20

Mutation analysis of Deafness, autosomal recessive 1A (Connexin 26)

CON001

GJB2

2 weeks

21

Mutation analysis of arthropathy, progressive pseudorheumatoid, of childhood

PPD001

WISP3

2 weeks

22

Mutation analysis of campomelic dysplasia

CDY001

SOX9

2 weeks

23

Mutation analysis of transcobalamin 2 deficiency

TCN001

TCN2

2 weeks

24

Mutation analysis of GM1 gangliosidosis

GMG001

GLB1 (sequencing the hotspots and the entire gene only if necessary)

2 weeks

25

Mutation analysis of Morquio A disease

MRQ001

GALNS (sequencing the hotspots and the entire gene only if necessary)

2 weeks

26

Mutation analysis of any common gene with ≤5 exons

SGN001

2 weeks

27

Mutation analysis of any unique gene with ≤5 exons

SGN002

Please contact us

28

Mutation analysis of any common gene with ≤10 exons

SGN003

3 weeks

Mutation analysis for specific diseases by MLPA/TP-PCR

29

Mutation analysis of Spinal muscular atrophy (PCR-RFLP)

SMA001

SMN1

1 week

30

Mutation analysis of Fragile X syndrome (TP-PCR)

FMR001

FMR1

Please contact us

31

Mutation analysis of Huntington disease (TP-PCR)

HDI001

HTT

1 week

32

Mutation analysis of Friedreich ataxia (TP-PCR)

FDA001

FXN

Please contact us

33

Mutation analysis of Myotonic dystrophy Type I (TP-PCR)

MDY001

DMPK

Please contact us

34

Mutation analysis of Common microdeletion syndromes (MLPA)

MDS001

1 week

35

Mutation analysis of Angelman syndrome/ Prader Willi syndrome (MS-MLPA)

PWA001

MKRN3, MAGEL2, NDN, SNRPN and the snoRNA cluster; UBE3A

1 week

36

Mutation analysis of Spinal muscular atrophy by MLPA (or carrier testing)

SMA002

SMN1 and SMN2

1 week

37

Mutation analysis of Duchenne muscular dystrophy (MLPA)

DMD001

DMD

1 week

38

Mutation analysis of Hunter syndrome (MLPA)

HNT001

IDS

1 week

39

Mutation analysis of Marfan syndrome (MLPA)

MFN002

FBN1 and TGFBR2

1 week

40

Congenital adrenal hyperplasia (Sanger sequencing and MLPA)

CAH001

CYP21A2 (Deletion/duplication and sequence analysis of CYP21A2) MLPA and Sanger sequencing

2 weeks

Prenatal Diagnosis*

41

Rapid aneuploidy testing for chromosomes 13, 18, 21, X and Y by QF-PCR

PND001

Detection of common aneuploidies in amniotic fluid, chorionic villus sample, etc.

1 week

42

Prenatal diagnosis of any monogenic disease, detection of common aneuploidies and maternal cell contamination (if a diagnosis is established in the proband or if the parents are confirmed carriers)

PND002

Targeted mutation analysis by Sanger sequencing or MLPA, or any of the above techniques with detection of aneuploidies and testing for maternal cell contamination

10 days

* Please provide fetal samples (amniotic fluid 10 ml or sufficient chorionic villi) and 2ml EDTA blood samples of both parents. Also provide copies of previous genetic test reports of the proband and family members

Any genetic test on request: Please contact us at office@sumagenomics.in

Sample requirements: 2-3 ml EDTA blood samples or DNA or tissue of proband and parents, affected and unaffected siblings (as necessary). Turnaround time begins on the date of receipt of payment and samples, whichever is later. For patient information sheets, consent forms, test request forms and information for clinicians, please see our website www.sumagenomics.in

Download list of services 2021-2022 here

For test codes and prices, please click here