|
PRONTO® CF Euro I |
Cystic Fibrosis |
CFTR (F508del, G542X, W1282X, N1303K, 1717-1G>A, R1162X) | 6 | 24 | F9946 |
PRONTO® DNA Extraction kit (from human whole blood) | | | 48 samples | | F9925 |
PRONTO® 5FU | 5-Fluorouracil sensitivity | DPYD (IVS14+1G>A) | 1 | 144 | F9984 |
PRONTO® Gaucher |
Gaucher |
GBA (84GG, IVS2+1G>A, N370S [1226A>G], D409H [1342G>C], L444P [1448T>C], V394L [1297G>T]) | 6 | 24 | F9900 |
PRONTO® Gaucher Screen |
Gaucher |
GBA (84GG, IVS2+1G>A, N370S [1226A>G], R496H [1604G>A], L444P [1448T>C], V394L [1297G>T]) | 6 | 24 | F9900-1 |
PRONTO® ML4 |
Mucolipidosis IV |
MCOLN1 (Del[ex1-7], IVS3-2A>G) | 2 | 48 | F9960 |
PRONTO® Niemann Pick |
Niemann Pick Type A,
Type B |
SMPD1 (L302P, fsP330, R496L, R608del) | 4 | 36 | F9961 |
PRONTO® FD |
Familial Dysautonomia
(Riley Day Syndrome) |
IKBKAP (2507+6T>C) | 1 | 96 | F9948 |
PRONTO® FD Screen |
Familial Dysautonomia
(Riley Day Syndrome) |
IKBKAP (2507+6T>C, R696P) | 2 | 48 | F9963 |
PRONTO® GSD |
Glycogen Storage Disease Type 1a |
G6PC (R83C) | 1 | 144 | F9967/2 |
PRONTO® Joubert |
Joubert Syndrome 2 |
TMEM216 c.35G>T (p.12R>L) | 1 | 96 | F9987 |
PRONTO® MNUG (MN format) |
1. Maple Syrup Urine Disease 1b
2. Nemaline Myopathy 2 |
BCKDHB (R183P) | 2 | 72 | F9975/1 |
PRONTO® Tay-Sachs Ash |
Tay-Sachs |
HEXA (1278insTATC, G269S [805G>A], IVS12+1G>C) | 3 | 48 | F9958 |
PRONTO® Tay-Sachs Screen |
Tay-Sachs |
HEXA (1278insTATC,G269S, IVS12+1G>C, R170Q, IVS5-2A>G, F304del) | 6 | 24 | F9981 |
PRONTO® Usher |
Usher Syndrome |
PCDH15 (R245X) | 1 | 144 | F9967/1 |
PRONTO® ProntoPlex™ AAT |
Alpha-1 Antitrypsin Deficiency |
SERPINA1 [AAT] (PiZ and PiS) | 2 | 96 | F9965 |
PRONTO® FMF Screen™ |
Familial Mediterranean Fever |
MEFV (M680I, M694V, M694I, V726A, E148Q) | 5 | 24 | F9904 |
PRONTO® Hemochromatosis |
Hereditary Hemochromatosis |
HFE (C282Y, H63D, S65C) | 3 | 32 | F9949 |
PRONTO® ThromboRisk™ |
Predisposition to Thrombosis |
F5 / Factor V (1691G>A) F2 / Factor II (20210G>A) MTHFR (677C>T) | 3 | 32 | F9923 |
PRONTO® Factor V |
Predisposition to Thrombosis |
F5 / Factor V (1691G>A) | 1 | 96 | F9905 |
PRONTO® Prothrombin |
Predisposition to Thrombosis |
F2 / Factor II (20210G>A) | 1 | 96 | F9909 |
PRONTO® MTHFR |
Predisposition to Thrombosis |
MTHFR (677C>T) | 1 | 96 | F9910 |
PRONTO® WarfaRisk™ |
Warfarin dosage |
CYP2C9 (*2 [430C>T], *3 [1075A>C]) VKORC1(-1639G>A) | 3 | 48 | F9979 |
PRONTO® WarfaRisk+™ |
Warfarin dosage |
CYP2C9 (*2 [430C>T], *3 [1075A>C]) VKORC1 (-1639G>A, 5417G>T) | 4 | 36 | F9980 |
PRONTO® ProntoTaq™ - HotStart Taq polymerase | | |
50 µL
(5 units/µL) | | F9101 |
PRONTO® Connexin |
Deafness |
GJB2 connexin 26 (35delG, 167delT) GJB6 connexin 30 (del[GJB6-D13S1830]) | 3 | 48 | F9954 |
PRONTO® 2 GeneScreen |
1.Mucolipidosis IV
2.Niemann Pick Type A, Type B |
MCOLN1 (Del[ex 1-7],IVS3-2A>G)
SMPD1 (L302P, fsP330, R496L, R608del) | 6 | 24 | F9954 |
PRONTO® 4 GeneScreen |
1. Canavan
2. Bloom Syndrome
3. Fanconi Anemia C
4. Familial Dysautonomia |
ASPA (693C>A, 854A>C) BLM (2281del6ins7) FANCC (IVS4+4A>T) IKBKAP (2507+6T>C, R696P) | 6 | 24 | F9953 |
PRONTO® Canavan |
Canavan |
ASPA (693C>A, 854A>C) | 2 | 48 | F9906 |
PRONTO® Bloom/Fanconi |
1. Bloom Syndrome
2. Fanconi Anemia C |
BLM (2281del6ins7) FANCC (IVS4+4A>T) | 2 | 48 | F9931 |
PRONTO® Ataxia/Fanconi A |
1. Ataxia Telangiectasia
2. Fanconi Anemia A |
ATM (103C>T) FANCA (2127-2173insG, 4275delT) | 3 | 48 | F9982 |
PRONTO® CF Basic |
Cystic Fibrosis |
CFTR (F508del, G542X, W1282X, N1303K, 3849+10KbC>T) | 5 | 24 | F9901 |
PRONTO® CF Basic+ |
Cystic Fibrosis |
CFTR (F508del, G542X, W1282X, N1303K, 3849+10KbC>T, D1152H) | 6 | 24 | F9943 |
PRONTO® CF Open (choose 1-8 desired mutations) |
Cystic Fibrosis |
CFTR (S549R, G85E, D1152H, W1089X, 1717-1G>A, 405+1G>A, Q359K/T360K, 4010delTATT) | 8 | 96 | F9920 |
PRONTO® CFTR 5T |
Cystic Fibrosis
CBAVD - congenital
bilateral absence
of the vas deferens |
CFTR (5T/7T/9T) | 1 | 48 | F9945 |
PRONTO® AAT |
Alpha-1 Antitrypsin Deficiency |
SERPINA1 [AAT] (PiZ) | 1 | 144 | F9971 |
PRONTO® ApoE |
Predisposition to Hypercholesterolemia, Cardiovascular Disease |
APOE (ε2, ε3, ε4) | 2 | 48 | F9903 |
PRONTO® APC |
Predisposition to Colorectal Cancer |
APC (3920T>A) | 1 | 96 | F9907 |
PRONTO® BRCA |
Predisposition to Breast and Ovarian Cancer |
BRCA1 (185delAG, 5382insC) BRCA2 (6174delT) | 3 | 48 | F9911 |
PRONTO® ClopidoRisk™ |
Clopidogrel metabolism |
CYP2C19 (*2,*3,*4,*5) ABCB1 (3435C>T) | 5 | 24 | F9985 |