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

10 October 2024

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

Name of Provider

Address

AR Centres

Alpha IVF Centre Alpha Women’s Specialists

101 Irrawaddy Road, #12-07 to 14, Royal Square At Novena, S(329565)

KK Women's and Children's Hospital

100 Bukit Timah Road, S(229899)

Monash IVF Fertility Centre

101 Irrawaddy Road  #08-01 Royal Square Medical Centre S(329565)

Mount Elizabeth @ Heeren

260 Orchard Rd The Heeren #05-01, 238855

Mount Elizabeth Hospital

3 Mount Elizabeth, S(228510)

National University Hospital

5 Lower Kent Ridge Road S(119074)

O&G Partners IVF Centre

6A Napier Road, Gleneagles Hospital, #05-34, S(258500)

Sincere IVF Center

8 Sinaran Drive, Novena Specialist Center,  #06-09/10/11, S(307470)

Singapore General Hospital

Outram Road, S(169608)

Thomson Fertility Centre

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

Virtus Fertility Centre

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

Laboratory

National University Hospital

5 Lower Kent Ridge Road, S(119074)

Updated as of 10 Oct 2024

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:

Table 2: List of allowable conditions for PGT-M to be performed

Condition Type

Conditions

(I) Autosomal Dominant Conditions

1. Autosomal Dominant Dilated Cardiomyopathy (TTN)

2. Autosomal Dominant Retinitis Pigmentosa (PRPF3)

3. Breast-ovarian cancer, familial, susceptibility to, 1 (BRCA1)

4. Breast-ovarian cancer, familial, susceptibility to, 2 (BRCA2)

5. Breast-ovarian cancer, familial, susceptibility to, 4 (RAD51D)

6. Facioscapulohumeral muscular dystrophy 1 (FSHD1)

7. Familial adenomatous polyposis 1 (APC)

8. Hereditary Pancreatitis (PRSS1-related highly penetrant pathogenic variants only i.e. p.Asn29Ile and p.Arg122His)

9. Huntington disease (HTT)

10. INS-related permanent neonatal diabetes

11. Li-Fraumeni syndrome (TP53)

12. Lynch syndrome 2 (MLH1)

13. Maple Syrup Urine Disease (MSUD)

14. Marfan syndrome (FBN1)

15. Multiple endocrine neoplasia, type 1 (MEN1)

16. Multiple endocrine neoplasia, type 2A (RET)

17. Myotonic dystrophy, type 1 (DMPK)

18. Osteogenesis Imperfecta, type I (COL1A1)

19. Osteogenesis imperfecta, type V (IFITM5)

20. PALB2-cancer predisposition syndrome (PALB2)

21. Plakophilin-2 (PKP2) (to exclude embryos affected with 2 pathogenic PKP2 gene variants)

22. Polycystic kidney disease 1 (PKD1)

23. Polycystic kidney disease 2 (PKD2)

24. Rhabdoid tumor predisposition syndrome 1 (SMARCB1)

25. Spinocerebellar ataxia, type 2 (ATXN2)

26. Spinocerebellar ataxia, type 3 (ATXN3)

27. STAT3 Hyper IgE Syndrome (STAT3-HIES)

28. Tuberous sclerosis 2 (TSC2)
29. Von Hippel-Lindau Syndrome (VHL)

(II) Autosomal Recessive Conditions

30. Adrenal hyperplasia, congenital, 1 (CYP21A2)

31. Alkuraya-Kucinskas syndrome (KIAA1109)

32. Alpha-thalassemia (HBA2 and HBA1 , but excluding deletional HbH disease and all other milder forms, such as alpha-thalassemia silent carrier or alpha-thalassemia carrier)

33. Autosomal Recessive Alport Syndrome (ARAS) (COL4A4)

34. Autosomal Recessive Congenital Titinopathy (TTN)

35. Autosomal Recessive Polymicrogyria (ADGRG1)

36. Bardet Biedl syndrome, BBS2-related

37. Beta-thalassemia (HBB)

38. 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

39. Ceroid lipofuscinosis, neuronal, 1 (PPT1)

40. Developmental and Epileptic Encephalopathy 44 (DEE 44), UBA5 gene

41. Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)

42. Galactosemia 1 / classical galactosemia (GALT)

43. Gaucher disease, type 1 (GBA)

44. Glycogen storage disease II, classical infantile form / Pompe disease (GAA)

45. Harlequin ichthyosis (ABCA12)

46. Herlitz junctional epidermolysis bullosa (LAMB3)

47. Infantile osteopetrosis, autosomal recessive 1 (TCIRG1)

48. Leber Congenital Amaurosis 9 (LCA9)

49. Leigh Syndrome (Infantile Subacute Necrotising Encephalopathy) due to mitochondrial complex IV deficiency (SURF1)

50. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)

51. MANBA-related Mannosidosis beta

52. Matthew Wood syndrome / Microphthalmia, syndromic 9 (STRA6)

53. Meckel Syndrome, Type 6 / Joubert syndrome 9 (CC2D2A)

54. Netherton syndrome (SPINK5)

55. Pierson syndrome (LAMB2)

56. Pontocerebellar hypoplasia type 7 (PCH7)

57. Pseudo-TORCH syndrome 1 (OCLN)

58. Renal Tubular Dysgenesis (REN)

59. Renal tubular dysgenesis (AGT-related)
60. Sensenbrenner syndrome / Cranioectodermal dysplasia 1 (IFT122)

61. Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)

62. Sickle Cell Anaemia (HBB)

63. Spinal muscular atrophy, Type 1 and Type 2 (SMN1)

64. Sulfite oxidase deficiency, isolated (SUOX)

65. Wolcott-Rallison syndrome (EIF2AK3)

(III) X-linked Conditions

66. Agammaglobulinemia, X-linked 1 (BTK)

67. Coffin-Lowry syndrome (RPS6KA3)

68. Duchenne/Becker muscular dystrophy (DMD)

69. Fabry disease, classic form (GLA)

70. Fragile X syndrome (FMR1)

71. Hemophilia A (F8)

72. Hemophilia B (F9)

73. Hydrocephalus, X-linked / MASA syndrome (L1CAM)

74. Incontinentia pigmenti / Bloch-Sulzberger syndrome (IKBKG)

75. Kennedy’s disease (AR) (alleles with more than or equal to 38 CAG repeats only)

76. Lowe oculocerebrorenal syndrome (OCRL)

77. Ocular albinism (GPR143)

78. Severe combined immunodeficiency (IL2RG)

79. WAS-related disorder

80. X-linked hypophosphatemia (XLH)

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:

Table 3: List of allowable conditions for PGT-SR to be performed

Condition Type

Conditions

(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;3)(p34;p21)
7. t(1;4)(p31;q33)
8. t(1;4)(q43;q23)
9. t(1;6)(q25;p22.1)
10. t(1;7)(p36.1;p15.1)
11. t(1;8)(q43;q22.3)
12. t(1;9)(p10;p10)
13. t(1;9)(p10;q10)
14. t(1;10)(p32;q11.2)
15. t(1;11)(p13.3;q21)
16. t(1;13)(p12;q14.1)
17. t(1;15)(p.34.1-34.2;q24)
18. t(1;16)(q12;q24)
19. t(1;16)(q23~24;p12)
20. t(1;19)(p36.2;p13.2)
21. t(2;3)(q37.1;p21.3)
22. t(2;5;14)(p23;q31.1;q32.2)
23. t(2;7)(q33;p13)
24. t(2;8)(q35;q22.3)
25. t(2;10)(q12;q24.3)
26. t(2;11)(q35;q21)
27. t(2;11)(q37.1;q23.1)
28. t(2;12)(q13;q15)
29. t(2;15)(p13;q22-24)
30. t(2;19)(q14.1;p13.3)
31. t(2;19)(q32.1;q13.4)
32. t(3;4)(q25.3;q21.2)
33. t(3;9)(q21;q22.3)
34. t(3;15)(p10;p10)
35. t(3;17)(q21;p13)
36. t(4;7)(p14;p11.2)
37. t(4;7)(p16.3;p22.1)
38. t(4;8)(q22;p23.2)
39. t(4;9)(p16.3;p13)
40. t(4;15)(q12;q13)
41. t(4;15)(q12;q15)
42. t(4;16)(p15.3;p13.3)
43. t(5;7)(p12;q31.3)
44. t(5;8)(q23.3;q23)
45. t(5;9)(p13;p22)
46. t(5;11)(q31.1,q21)
47. t(5;20)(p15.2;q13.3)
48. t(6;7)(q25.3;q32)
49. t(6;13)(q14;q32)
50. t(6;17)(q22.3;q24)
51. t(6;22)(p21.3;q13.1)
52. t(7;11)(p21;q23.3)
53. t(7;15)(q21.2;q25)
54. t(7;15)(q21.2;q26.1)
55. t(7;19)(p22;p13.1)
56. t(8;9)(q24.1~24.22;p22)
57. t(8;11)(p11.2;q13.3)
58. t(8;12)(q23;q13.2)
59. t(8;17)(q24.21;q21.3)
60. t(8;22)(p11.2;q13.3)
61. t(10;11)(p15;p13)
62. t(11;14)(q23.1;q32.3)
63. t(11;21)(q24.2;q22.2)

64. t(11;22)(q23;q11.2)
65. t(12;15)(q15;q11.2)
66. t(12;15)(q24.1;q26.1)
67. t(12;22)(p11.2;q11.2)
68. t(16;17)(q23;q12)
69. t(Y;9)(q12;q21.12)

(III) Inversions

70. inv(1)(p36.1q42.3)
71. inv(2)(p11q13)
72. inv(8)(p11.2q22.1)
73. inv(9)(p12;q13)
74. inv(10)(p15q11.2)
75. inv(11)(p15.4;q24)
76. inv(13)(p11.2q14.1)

(IV) Miscellaneous

77. mos del(11)(q14.2q23.2)
78. del(22)(q11.2q11.2)
79. del(X)(q21.2q26)
80. del(X)(q25q28)
81. der(14;15)(q10;q10)
82. der(15)t(Y;15)(q12;p11.2)

83. dic(12;22)(p11;p13), der(21)t(12;21)(p11;q10)
84. dup(X)(q13.1q21.1)
85. mos dup(8)(q24.13q24.3)

86. mos X/XY
87. mos X/XX
88. mos X/XXX/XX

89. mos XXXXX/XX


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