NIFTY GOLD (the Gold Standard)
NIFTY PRO includes the control of 84 types of syndromes (micro-elliptical / duplication), the structural abnormalities (eg trisomies, deficiencies) of all chromosomes.
More information can be found on the BGI website:
NIFTY GOLD includes that 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 and
5) 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.