NIFTY GOLD (the Gold Standard)

The NIFTY PRO includes control 84 species syndromes (micro-elliptical / duplication), structural abnormalities (eg trisomies, deficiencies) of all chromosomes.
More information can be found on the BGI website:

The NIFTY GOLD includes that of NIFTY PRO with additional mother control (carrier screening) for:

  1. 99.6% of Cystic Fibrosis with NGS,
  2. 97% of B-Glovin with NGS,
  3. SMN1 Spinal Muscular Atrophy (~ 95%), with MLPA,
  4. SMN1 "2 + 0" (SMN1 silent carrier) genotype detection with NGS
  5. and neonatal screening for 60 metabolic diseases from a Guthrie card, with mass spectroscopy and ELISA.

After the 10th week. The response time of the test varies from 1 to 2 weeks.

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