List of diseases covered by
Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome,
Alström Syndrome, Albright Hereditary Osteodystrophy
NGS panel

Gene Condition
ALMS1 Alstrom syndrome
ARL6 Bardet-Biedl syndrome 3; Retinitis pigmentosa 55
BBIP1 Bardet-Biedl syndrome 18
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2; Retinitis pigmentosa 74
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
CCDC28B Bardet-Biedl syndrome 1, modifier of
CEP290 Bardet-Biedl syndrome 14; Joubert syndrome 5;
Leber congenital amaurosis 10; Meckel syndrome type 4;
Senior-Loken syndrome 6
IFT27 Bardet-Biedl syndrome 19
IFT172 Retinitis pigmentosa 71;
Short-rib thoracic dysplasia 10 with or without polydactyly
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism
LZTFL1 Bardet-Biedl syndrome 17
MKS1 Bardet-Biedl syndrome 13; Joubert syndrome 28;
Meckel syndrome 1
MKKS Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome
PHF6 Borjeson-Forssman-Lehmann syndrome
SDCCAG8 Bardet-Biedl syndrome 16; Senior-Loken syndrome 7
TMEM67 COACH syndrome; Joubert syndrome 6;
Meckel syndrome 3; Bardet-Biedl syndrome 14, modifier of
TRIM32 Bardet-Biedl syndrome 11
TTC8 Retinitis pigmentosa 51; Bardet-Biedl syndrome 8
WDPCP Bardet-Biedl syndrome 15