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

23 Sep 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)
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. Polycystic kidney disease 1 (PKD1)
10. Polycystic kidney disease 2 (PKD2)
11. Rhabdoid tumor predisposition syndrome 1 (SMARCB1)
12. Spinocerebellar ataxia, type 2 (ATXN2)
13. Spinocerebellar ataxia, type 3 (ATXN3)
14. Tuberous sclerosis 2 (TSC2)
15. Von Hippel-Lindau Syndrome (VHL)

(II) Autosomal Recessive Conditions

16. Adrenal hyperplasia, congenital, 1 (CYP21A2)
17. Alkuraya-Kucinskas syndrome (KIAA1109)
18. Alpha-thalassemia (HBA2 and HBA1)
19. Beta-thalassemia (HBB)
20. 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
21. Ceroid lipofuscinosis, neuronal, 1 (PPT1)
22. Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
23. Galactosemia 1 / classical galactosemia (GALT)
24. Gaucher disease, type 1 (GBA)
25. Glycogen storage disease II, classical infantile form / Pompe disease (GAA)
26. Harlequin ichthyosis (ABCA12)
27. Herlitz junctional epidermolysis bullosa (LAMB3)
28. Infantile osteopetrosis, autosomal recessive 1 (TCIRG1)
29. Leigh syndrome (Infantile Subacute Necrotising Encephalopathy) due to mitochondrial complex IV deficiency (SURF1)
30. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
31. Matthew Wood syndrome / Microphthalmia, syndromic 9 (STRA6)
32. Meckel syndrome, Type 6/ Joubert syndrome 9 (CC2D2A)
33. Netherton syndrome (SPINK5)
34. Pierson syndrome (LAMB2)
35. Pseudo-TORCH syndrome 1 (OCLN)
36. Renal Tubular Dysgenesis (REN)
37. Sensenbrenner syndrome / Cranioectodermal dysplasia 1 (IFT122)
38. Sickle Cell Anaemia (HBB)
39. Short-rib thoracic dysplasia 3 with or without polydactyly (DYNC2H1)
40. Spinal muscular atrophy, Type 1 and 2 (SMN1)
41. Sulfite oxidase deficiency, isolated (SUOX)
42. Wolcott-Rallison syndrome (EIF2AK3)

(III) X-linked Conditions

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

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(5;9)(p13;p22)
27. t(5;11)(q31.1,q21)
28. t(5;20)(p15.2;q13.3)
29. t(6;13)(q14;q32)
30. t(6;17)(q22.3;q24)
31. t(6;22)(p21.3;q13.1)
32. t(7;11)(p21;q23.3)
33. t(7;15)(q21.2;q26.1)
34. t(8;9)(q24.1~24.22;p22)
35. t(8;11)(p11.2;q13.3)
36. t(8;17)(q24.21;q21.3)
37. t(8;22)(p11.2;q13.3)
38. t(10;11)(p15;p13)
39. t(11;14)(q23.1;q32.3)
40. t(11;21)(q24.2;q22.2)
41. t(11;22)(q23;q11.2)
42. t(12;15)(q15;q11.2)
43. t(12;22)(p11.2;q11.2)
44. t(16;17)(q23;q12)

(III) Inversions

45. inv(2)(p11q13)
46. inv(9)(p12;q13)
47. inv(10)(p15q11.2)
48. inv(11)(p15.4;q24)

(IV) Miscellaneous

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