گزارش غربالگری ناقلی

اگر به تشکیل خانواده و فرزندآوری فکر می‌کنید، ما به شما تست غربالگری ناقلی میروژن را پیشنهاد می‏‌کنیم. این تست انواعی از جهش‌های ژنتیکی را بررسی می‏‌کند که ممکن است بر سلامت شما تاثیر نداشته باشد اما می‏‌تواند باعث ایجاد بیماری در فرزندانتان گردد. میروژن در این گزارش اطلاعات ارزشمندی در مورد میزان خطر احتمالی برای داشتن فرزندی مبتلا به انواعی از بیماری‌های ژنتیکی را در اختیار شما قرار می‌دهد. در نتیجه با اطلاع از ژنتیک خود می‌توانید در ازدواج و فرزند‌آوری با خیالی آسوده و آگاهی کامل عمل نمایید.

موارد مورد بررسی در این گزارش:

Metabolic Disorders: 49 diseases

1. 1. 1. 1. 1. Acute intermittent porphyria
2. Alpha-1 Antitrypsin Deficiency
3. Alpha-mannosidosis
4. Biotinidase deficiency
5. cblA Type Methylmalonic aciduria
6. cblB Type Methylmalonic aciduria
7. Classical homocystinuria due to CBS deficiency
8. Congenital disorder of glycosylation type 1a (PMM2-CDG)
9. Cystic fibrosis
10. Cystinosis
11. D-Bifunctional Protein Deficiency
12. Dihydrolipoamide Dehydrogenase Deficiency
13. Dubin-Johnson syndrome
14. Familial hyperinsulinism (ABCC8-related)
15. Gaucher disease
16. Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency)
17. Glutaric Acidemia type 1
18. Glutaric Acidemia type 2
19. Glycogen storage disease type 1A (Von Gierke Disease)
20. Glycogen storage disease type 1B
21. Glycogen storage disease type 3
22. Glycogen storage disease type 5
23. Glycogenosis type 2 or Pompe disease
24. GRACILE syndrome
25. Hereditary fructose intolerance
26. Hereditary hemochromatosis associated with HFE
27. Homocystinuria due to MTHFR deficiency
28. Hypophosphatasia
29. Maple syrup urine disease type 1B
30. Medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
31. Metachromatic leukodystrophy
32. Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
33. Mucolipidosis IV
34. Mucolipidosis type II
35. Niemann-Pick disease type A
36. Peters plus syndrome
37. Phenylketonuria
38. Primary hyperoxaluria type 1 (PH1)
39. Primary hyperoxaluria type 2 (PH2)
40. Rhizomelic Chondrodysplasia Punctata Type 1
41. Salla Disease
42. Short chain acyl-CoA dehydrogenase deficiency (SCADD)
43. Tay-Sachs disease
44. Type 1 Oculocutaneous albinism (tyrosinase negative)
45. Type 2 oculocutaneous albinism (tyrosinase positive)
46. Tyrosinemia type I
47. Very long chain acyl-CoA dehydrogenase deficiency (VLCADD)
48. Wilson disease
49. Zellweger syndrome

Neurological Disorders: 13 diseases

1. Leigh Syndrome, French-Canadian type (LSFC)
2. Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1)
3. Neuronal Ceroid-Lipofuscinoses type 3 (associated to CLN3)
4. Neuronal Ceroid-Lipofuscinoses type 5 (associated to CLN5)
5. Neuronal Ceroid-Lipofuscinoses type 6 (associated to CLN6)
6. Neuronal Ceroid-Lipofuscinoses type 7 (associated to MFSD8)
7. Pontocerebellar hypoplasia
8. Pyridoxine-dependent epilepsy
9. Refsum disease
10. Canavan Disease
11. Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN)
12. Familial dysautonomia (Riley-Day syndrome)
13. Leukoencephalopathy with vanishing white matter

Neuromuscular Disorders: 4 diseases

1. ARSACS (Autosomal recessive spastic ataxia of Charlevoix-Saguenay)
2. Congenital muscular alpha-dystroglycanopathy and Walker-Warburg syndrome
3. Congenital myasthenic syndrome
4. Limb-girdle muscular dystrophy

Connective Tissue Disorders: 4 diseases

1. Diastrophic dysplasia
2. Ehlers-Danlos Syndrome (EDS)
3. Sjögren-Larsson syndrome
4. Junctional Epidermolysis Bullosa

Eye and Ear Disorders: 6 diseases

1. Complete achromatopsia (type 2) and Incomplete achromatopsia
2. Congenital stationary night blindness 1C
3. Retinitis pigmentosa
4. Usher syndrome
5. Nonsyndromic Hearing Loss and Deafness, DFNB1
6. Pendred syndrome

Hematological Disorders: 3 diseases

1. Beta Thalassemia
2. Fanconi Anemia (FANCC-related)
3. Hemophilia A

Immune System Disorders: 2 diseases

1. Familial Mediterranean fever
2. Bloom syndrome

Renal and Urinary Tract Disorder: 1 disease

1. Autosomal recessive polycystic kidney disease