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