Approved Providers of Pre-Implantation Genetic Testing for Monogenic / Single Gene Defects and Chromosomal StructuraL Rearrangement Services

29 Dec 2021

Approved Providers of Pre-Implantation Genetic Testing for Monogenic/Single Gene Defects and Chromosomal Structural Rearrangement Services

Following the recent announcement by the Ministry of Health (MOH) on 4 May 2021 on the introduction of pre-implantation genetic testing for monogenic / single gene defects (PGT-M) and pre-implantation genetic testing for chromosomal structural rearrangements (PGT-SR) as regulated clinical services, the list of approved hospitals and medical clinics offering Assisted Reproduction (AR) service that patients can approach for PGT-M/SR services can be found below in Table 1. The list of approved providers is subject to change, and couples who require PGT-M or PGT-SR services are encouraged to confirm directly with their AR providers on their licensing status, should they have any queries.

Table 1: List of approved PGT-M/SR providers


Updated as of 15 Jun 2021
Name of ProviderAddress
AR Centres

Thomson Fertility Centre (Clinic)

290 Orchard Road, #19-01, Paragon Medical Centre, S(238859)

Virtus Fertility Centre (Clinic)

9 Scotts Road, #09-01 to 05, Pacific Plaza, S(228210)

KK Women's and Children's Hospital (Hospital)

100 Bukit Timah Road, S(229899)

Mount Elizabeth Hospital (Hospital)

3 Mount Elizabeth, S(228510)

Alpha IVF Centre Alpha Women’s Specialists (Clinic)101 Irrawaddy Road, #12-07 to 14, Royal Square At Novena, S(329565)
Sincere IVF Center (Clinic)8 Sinaran Drive, #06-09/10/11, Novena Specialist Center, S(307470)
O&G Partners Fertility Centre (Clinic)6A Napier Road, #05-34, Gleneagles Hospital, S(258500)
Singapore General Hospital (Hospital)Outram Road, S(169608)
National University Hospital (Hospital)5 Lower Kent Ridge Road S(119074)
Laboratory

National University Hospital

Lower Kent Ridge Road, S(119074)


Allowable Conditions for PGT-M/SR to be Performed

As part of the Regulatory Terms and Conditions, AR centres approved to provide PGT-M/SR services can only carry out PGT-M/SR for specified hereditary conditions listed below. MOH's approval must be sought for PGT-M/SR to be performed for conditions beyond the list provided.


Pre-implantation Genetic Testing for Monogenic / Single Gene Defects (PGT-M)

PGT-M using Polymerase Chain Reaction (PCR)-based single cell tests for the following genetic diseases:

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(I) Autosomal Dominant Conditions

1. Breast-ovarian cancer, familial, susceptibility to, 1 (BRCA1)
2. Breast-ovarian cancer, familial, susceptibility to, 2 (BRCA2)
3. Familial adenomatous polyposis 1 (APC)
4. Huntington disease (HTT)
5. Li-Fraumeni syndrome (TP53)
6. Marfan syndrome (FBN1)
7. Multiple endocrine neoplasia, type 2A (RET)
8. Myotonic dystrophy, type 1 (DMPK)
9. Osteogenesis imperfecta, type V (IFITM5)
10. Polycystic kidney disease 1 (PKD1)
11. Polycystic kidney disease 2 (PKD2)
12. Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
13. Spinocerebellar ataxia, type 2 (ATXN2)
14. Spinocerebellar ataxia, type 3 (ATXN3)
15. Tuberous sclerosis 2 (TSC2)
16. Von Hippel-Lindau Syndrome (VHL)

(II) Autosomal Recessive Conditions

17. Adrenal hyperplasia, congenital, 1 (CYP21A2)
18. Alkuraya-Kucinskas syndrome (KIAA1109)
19. Alpha-thalassemia (HBA2 and HBA1)
20. Beta-thalassemia (HBB)
21. Bile acid synthesis defect, congenital, type 2 / delta(4),3-oxosteroid 5-beta-reductase deficiency (AKR1D1) only for couples with gene mutation leading to null enzyme activity
22. Ceroid lipofuscinosis, neuronal, 1 (PPT1)
23. Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
24. Galactosemia 1 / classical galactosemia (GALT)
25. Gaucher disease, type 1 (GBA)
26. Glycogen storage disease II, classical infantile form / Pompe disease (GAA)
27. Harlequin ichthyosis (ABCA12)
28. Herlitz junctional epidermolysis bullosa (LAMB3)
29. Infantile osteopetrosis, autosomal recessive 1 (TCIRG1)
30. Leigh syndrome (Infantile Subacute Necrotising Encephalopathy) due to mitochondrial complex IV deficiency (SURF1)
31. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
32. Matthew Wood syndrome / Microphthalmia, syndromic 9 (STRA6)
33. Meckel syndrome, Type 6/ Joubert syndrome 9 (CC2D2A)
34. Netherton syndrome (SPINK5)
35. Pierson syndrome (LAMB2)
36. Pseudo-TORCH syndrome 1 (OCLN)
37. Renal Tubular Dysgenesis (REN)
38. Sensenbrenner syndrome / Cranioectodermal dysplasia 1 (IFT122)
39. Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)

40. Sickle Cell Anaemia (HBB)41. Spinal muscular atrophy, Type 1 and 2 (SMN1)
42. Sulfite oxidase deficiency, isolated (SUOX)
43. Wolcott-Rallison syndrome (EIF2AK3)

(III) X-linked Conditions

44. Agammaglobulinemia, X-linked 1 (BTK)
45. Coffin-Lowry syndrome (RPS6KA3)
46. Duchenne/Becker muscular dystrophy (DMD)
47. Fabry disease, classic form (GLA)
48. Fragile X syndrome (FMR1)
49. Hemophilia A (F8)
50. Hydrocephalus, X-linked / MASA syndrome (L1CAM)
51. Incontinentia pigmenti / Bloch-Sulzberger syndrome (IKBKG)
52. Lowe oculocerebrorenal syndrome (OCRL)
53. Ocular albinism (GPR143)
54. Severe combined immunodeficiency (IL2RG)

Pre-Implantation Genetic Testing for Chromosomal Structural Rearrangements (PGT-SR)

PGT-SR using PCR-based single cell tests or comprehensive 24-chromosome analysis test kits that perform only low-pass/low-coverage sequencing for the following structural rearrangements:

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(I) Robertsonian Translocations

1. rob(13;14)(q10;q10)
2. rob(13;15)(q10;q10)
3. rob(13;21)(q10;q10)
4. rob(15;21)(q10;q10)
5. rob(14:21)(q10;q10)

(II) Reciprocal Translocations

6. t(1;4)(p31;q33)
7. t(1;4)(q43;q23)
8. t(1;6)(q25;p22.1)
9. t(1;7)(p36.1;p15.1)
10. t(1;9)(p10;p10)
11. t(1;10)(p32;q11.2)
12. t(1;11)(p13.3;q21)
13. t(1;16)(q23~24;p12)
14. t(1;19)(p36.2;p13.2)
15. t(2;3)(q37.1;p21.3)
16. t(2;5;14)(p23;q31.1;q32.2)
17. t(2;8)(q35;q22.3)
18. t(2;10)(q12;q24.3)
19. t(2;11)(q35;q21)
20. t(2;15)(p13;q22-24)
21. t(2;19)(q14.1;p13.3)
22. t(2;19)(q32.1;q13.4)
23. t(3;4)(q25.3;q21.2)
24. t(4;7)(p16.3;p22.1)
25. t(4;15)(q12;q13)
26. t(4;15)(q12;q15)
27. t(5;9)(p13;p22)
28. t(5;11)(q31.1,q21)
29. t(5;20)(p15.2;q13.3)
30. t(6;13)(q14;q32)
31. t(6;17)(q22.3;q24)
32. t(6;22)(p21.3;q13.1)
33. t(7;11)(p21;q23.3)
34. t(7;15)(q21.2;q26.1)
35. t(8;9)(q24.1~24.22;p22)
36. t(8;11)(p11.2;q13.3)
37. t(8;17)(q24.21;q21.3)
38. t(8;22)(p11.2;q13.3)
39. t(10;11)(p15;p13)
40. t(11;14)(q23.1;q32.3)
41. t(11;21)(q24.2;q22.2)
42. t(11;22)(q23;q11.2)
43. t(12;15)(q15;q11.2)
44. t(12;22)(p11.2;q11.2)
45. t(16;17)(q23;q12)

(III) Inversions

46. inv(1)(p36.1q42.3)
47 inv(2)(p11q13)
48. inv(9)(p12;q13)
49. inv(10)(p15q11.2)
50. inv(11)(p15.4;q24)

(IV) Miscellaneous

51. mos del(11)(q14.2q23.2)
52. del(X)(q25q28)
53. der(15)t(Y;15)(q12;p11.2)
54. dic(12;22)(p11;p13), der(21)t(12;21)(p11;q10)
55. mos dup(8)(q24.13q24.3)
56. mos X/XY
57. mos X/XX
58. mos X/XXX/XX
59. mos XXXXX/XX