LOINC display name : TMEM216 gene c.218G T Molgen Ql (Bld/Tiss);
LOINC long common name : TMEM216 gene c.218G T [Presence] in Blood or Tissue by Molecular genetics method;
LOINC short name : TMEM216 c.218G T Bld/T Ql;
LOINC description : The presence of the TMEM216 gene mutation c.218G T (p.R73L, NM_001173990.1) is associated
with Joubert syndrome type 2. Among Ashkenazi Jewish individuals, the carrier frequency
is 1/92 (1.1%) and detection rate is approximately 99%. If negative, the patient's
carrier risk is reduced from 1/92 to less than 1/9100 (0.01%).[PMID: 20036350];
Has method