MRC-ET

MRC-ET Advanced Molecular Diagnostics.

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MRC-ET

MRC-ET Advanced Molecular Diagnostics.

Genetic Defects

Test code Test name Price birr Method Specimen Spec. Vol Temp. Frequency Reported Remarks
GD001 Congenital heart Disease , Critical congenital heart disease 3279 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc  2-8°C (24hrs.) F (>24hrs.)   1-2 weeks A
GD002 Congenital Adrenal Hyperplasia 3167 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD003 Growth hormone deficiency 2549 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD004 Thalassemia,
Thalassemia alpha,
Thalassemia beta		 2875 MLPA WB-EDTA or Buccal swab + 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD005 Autism spectrum disorders , Autism 2930 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD006 Craniofacial disorders 3050 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD007 Peripheral Chromosomal Analysis/Genetic analysis 2858 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD008 Karyotype/Sex determination 2825 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD009 Sex determination  (DSD) & Amenorrhea 3325 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD010 MODY I, MODY II 2767 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD011 Multiple Myeloma, Multiple Myeloma (@NIH) 3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD012 Phenylketonuria (PKU),
Phenylketonuria (@NIH) 		3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD012 Migraine ATP1A2-CACNA1A,
Migraine (@NIH) 		3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD013 Epilepsy 3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD014 Alzheimer, Alzheimer (@NIH) 3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD015 Trisomy Analysis (chromosomes 13, 18 and 21) 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD016 Chromosomal analysis for couples 5000 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD017 Genetic testing /Susceptibility test 3250 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD018 Down Syndrome, Down Syndrome (@NIH ) 2550 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD019 Chromosomal analysis for recurrent pregnancy loss 2858 MLPA WB-EDTA or Buccal swab + Fetus tissue Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD020 Neurofibromatosis NF1 and NF2 screening , NF1, NF2 2500 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD021 HSP 3000 MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A
GD022Marfan Syndrome MLPA WB-EDTA or Buccal swab + Clinical History 3-4cc 2-8°C (24hrs.) F (>24hrs.) Daily: 15:00 hrs. 1-2 weeks A