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SEQ1116 Smith-Lemli-Opitz syndrome
EXN1181 Diaphragmatic hernia
SEQ1101 Hermansky-Pudlak syndrome
SEQ1097 Joubert syndrome
SEQ9703 Emphysema secondary to AAT (alpha-1-antitrypsin) deficiency, S and Z variants SERPINA1 (PiS (Glu264Val): rs17580 and PiZ (Glu342Lys): rs28929474)
SEQ8331 Pitt-Hopkins syndrome
SEQ8281 Peutz-Jeghers syndrome
SEQ7771 Opitz syndrome
SEQ7511 Nijmegen syndrome
SEQ7512 Nijmegen syndrome
SEQ7105 Marshall-Smith syndrome
SEQ7102 Marfan syndrome
SEQ7104 Marfan syndrome
SEQ6509 Joubert syndrome type 9
SEQ6504 Joubert syndrome type 4
SEQ6505 Joubert syndrome type 5
SEQ6506 Joubert syndrome type 6
SEQ6508 Joubert syndrome type 8
SEQ6301 Joubert syndrome type 10
SEQ6302 Joubert Syndrome Type 12
SEQ6303 Joubert syndrome type 1
SEQ6502 Joubert syndrome type 2
SEQ5982 Hyper IgE
SEQ5965 Hemochromatosis
SEQ5981 Hydroletal Syndrome
SEQ5926 Hermansky-Pudlak syndrome
SEQ5927 Hermansky-Pudlak syndrome
SEQ5928 Hermansky-Pudlak syndrome
SEQ5929 Hermansky-Pudlak syndrome
SEQ5930 Hermansky-Pudlak syndrome
SEQ5921 Hermansky-Pudlak syndrome type 2
SEQ5922 Hermansky-Pudlak syndrome
SEQ5924 Hermansky-Pudlak syndrome
SEQ5925 Hermansky-Pudlak syndrome
SEQ5741 Gorlin syndrome
SEQ5742 Gorlin syndrome
SEQ5743 Chronic Granulomatous Disease
SEQ5671 GAPO syndrome
SEQ5402 Cystic fibrosis
SEQ5405 Cystic Fibrosis and Differential Diagnosis
SEQ5400 Cystic Fibrosis, 50 most frequent CFTR gene mutations
SEQ5401 Cystic fibrosis
SEQ5265 Tuberous sclerosis
SEQ5266 Tuberous sclerosis
SEQ5267 Tuberous sclerosis
SEQ5071 Pulmonary veno-occlusive disease
SEQ5072 Pulmonary veno-occlusive disease
SEQ4851 Ectrodactyly, Ectodermal Dysplasia and Palatal Cleft Syndrome type 3 (EEC Type 3)
SEQ4021 Brain demyelination due to methionine adenosyltransferase deficiency
SEQ3873 Pulmonary surfactant deficiency
SEQ3875 Pulmonary surfactant deficiency
SEQ3876 Pulmonary surfactant deficiency
SEQ3841 Mitochondrial trifunctional protein deficiency
SEQ3872 Pulmonary surfactant deficiency
SEQ3731 Fructose-1,6 diphosphatase deficiency
SEQ3081 Costello syndrome
SEQ2841 CHILD syndrome
SEQ2361 Bloom syndrome
SEQ2311 Síndrome de Birt-Hogg-Dube, mutaciones c.1285delC y c.1285dupC gen FLCN Birt-Hogg-Dube syndrome, c.1285delC and c.1285dupC mutations FLCN gene
SEQ2312 Birt-Hogg-Dube syndrome
SEQ2011 Kidney, interstitial, lung and joint autoimmune disease
SEQ1973 Spinal muscular atrophy with respiratory failure
SEQ1771 Antley-Bixler syndrome
SEQ1781 Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations by FGFR2 gene sequencing
SEQ1441 Alexander disease
SEQ1381 X-linked agammaglobulinemia
SEQ1291 2-hydroxyglutaric aciduria
SEQ1301 Fumaric aciduria, mutation c1431_1433dupAAA FH gene
SEQ1261 Methylmalonic acidemia with homocystinuria, type cbl F
SEQ1253 Methylmalonic acidemia
SEQ1254 Methylmalonic acidemia
SEQ1255 Methylmalonic acidemia
SEQ1256 Methylmalonic acidemia
SEQ1252 Methylmalonic acidemia
SEQ1072 DICER1 Syndrome
SEQ1074 Glow Syndrome (Tissue Mosaicism)
SEQ1038 Congenital Central Hypoventilation Syndrome
MLP3315 Smith-Lemli-Opitz, syndrome of
MLP3401 Hereditary hemorrhagic telangiectasia, Primary pulmonary hypertension
MLP2961 Peutz-Jeghers syndrome
MLP2801 Opitz syndrome
MLP2541 Marfan syndrome
MLP2542 Marfan syndrome
MLP2151 Hyper-IgE syndrome
MLP2001 Gorlin syndrome
MLP2020 Chronic granulomatous disease
MLP1831 Tuberous sclerosis 1
MLP1832 Tuberous sclerosis 2
MLP1901 Cystic fibrosis
MLP1551 CRI-DU-CHAT syndrome.
MLP1231 Birt-Hogg-Dube syndrome
MLP1005 X-linked Agammaglobulinemia
EXN1167 Lymphatic Malformations and Related Diseases
EXN1111 Pulmonary hypertension
EXN1105 Congenital central hypoventilation syndrome
EXN1110 Hermansky‐Pudlak syndrome
EXN1047 Hyperimmunoglobulin E syndrome
SEQ references correspond to studies performed using NIMSeq®
EXN references correspond to studies performed using ExoNIM®



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