|
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 |