ตรวจคัดกรองพาหะโรคทางพันธุกรรม 42 โรค เพื่อวางแผนครอบครัว

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• ค่าตรวจคัดกรองพาหะโรคทางพันธุกรรม 42 โรค เพื่อวางแผนครอบครัว ด้วยการเจาะเลือด

1. Alpha-Thalassemia
2. Bloom Syndrome
3. Canavan Disease
4. Citrullinemia Type 1
5. Congenital Disorder of Glycosylation (PMM2-Related) 
6. Cystic Fibrosis and Other CFTR-Related Disorders
7. Dihydrolipoamide Dehydrogenase Deficiency (DLD) 
8. DMD-Related Dystrophinopathy* (Including Duchenne/Becker Muscular Dystrophy and Dilated Cardiomyopathy)
9. Familial Dysautonomia
10. Familial Hyperinsulinism (ABCC8-Related)
11. Fanconi Anemia Type C
12. FKTN-Related Disorders (Including Walker-Warburg Syndrome)
13. Fragile X Syndrome*
14. Galactosemia (GALT Related)
15. Gaucher Disease
16. GJB2 Related DFNB1 Nonsyndromic Hearing Loss and Deafness
17. Glucose 6 Phosphate Dehydrogenase (G6PD) Deficiency
18. Glycogen Storage Disease Type la
19. Glycogen Storage Disease Type Il (Pompe Disease)
20. HBB Related Hemoglobinopathies (Including Beta Thalassemia and Sickle Cell Disease)
21. Krabbe Disease
22. Maple Syrup Urine Disease (MSUD) Type 1A
23. Maple Syrup Urine Disease (MSUD) Type 1B
24. Medium Chain Acyl CoA Dehydrogenase (MCAD) Deficiency 
25. Mucolipidosis Type IV
26. Mucopolysaccharidosis Type I Iincluding Hurler, Hurler Scheie, and Scheie Syndromes) 
27. Nemaline Myopathy 2
28. Neuronal Ceroid Lipofuscinosis (CLN3 related)
29. Niemann Pick Disease Type A/B
30. Pendred Syndrome
31. Phenylalanine Hydroxylase Deficiency (Including Phenylketonuria (PKU))
32. Polycystic Kidney Disease (PKHD1 Related)
33. Rhizomelic Chondrodysplasia Punctata Type 1/Refsum Disease (PEX7 Related)
34. Smith Lemli Opitz Syndrome
35. Spinal Muscular Atrophy
36. Tay-Sachs Disease/Hexosaminidase A Deficiency
37. TMEM216-Related Disorders (Including Joubert Syndrome 2 and Meckel Syndrome 2)
38. Tyrosinemia Type I
39. Usher Syndrome Type IF/PCDH15-Related Disorders
40. Usher Syndrome Type IIA/USH24-Related Disorders
41. Usher Syndrome Type IIlA
42. Zellweger Spectrum Disorder (PEX1-Related)