GEN Biomarket Trends Report LDTs Based On Mass Spec

GLNkeports: Market & 1ech Ana|ys|s, roduced by Lnal 8azvl, h.u. 2014 GLNengnews.
com
> Enal Razvi, Ph.D.
Managing Director
Select Biosciences, Inc.
enal@selectbio.us
GENReports: Market & Tech Analysis
LDTs Based on
Mass
Spectrometry
GLNkeports: Market & 1ech Ana|ys|s, roduced by Lnal 8azvl, h.u. 2014 GLNengnews.com
1he focus of th|s GLN Market & 1ech Ana|ys|s keport |s our connnu|ng
coverage of the mass spectrometry space as |ts trans|anng from
research to c||n|c
We have been fo||ow|ng the mass spectrometry marketp|ace and
based on our ana|yses have |dennhed areas of opportun|tyone of
these areas of opportun|ty |s the un||zanon of mass spectrometry for
c||n|ca| d|agnosncs
1hls ls an emerglng eld and Lhere are currenLly a large number of laboraLory
developed LesLs (Lu1s) based on mass specLromeLry
very few lvus based on mass specLromeLry currenLly
No S|gn|hcant enetrance of Cnco|ogy Space by Mass Spectrometry
In th|s report, we document the LD1s based on mass spectrometry as a
means to character|ze the |mpact of mass spectrometry on the
broader d|agnosncs space
In a subsequent report, we'|| be prov|d|ng coverage on the IVDs based
on mass spectrometry-based detecnon
1op|c Introducnon and Scope
Mass Spectrometry Market Segmentanon
and Lvo|unon
1. MS Market Segments are Presented as Relevant to the Clinical Diagnostics Space
2. MS also Impacting Microbiology
3. Not Much Impact in Cancer/Oncology Space ! Anecdotal Reports for Cancer Biomarker Studies
4. Emerging Impact for Testing Proteins/Peptides ! Emerging Applications in Development
5. Many LDTs and a Few IVDs based on Mass Spectrometry
kesearch
Market
[kUC]
C||n|ca| D|agnosncs Market
Segments
Impacted by MS
Newborn
Screen|ng
Drugs of Abuse
1esnng
[Downstream
Assay]
renata| 1esnng
Metabo||te
1esnng [AA, IA]
Stero|ds [Lndocr|ne
D|sordersa ma[or
dr|ver], V|tam|ns
M|crob|o|ogy
Insntunon D|sease Area[s] Addressed
MS 1echno|ogy
Dep|oyed
ASk]Add|nona| Informanon
on Ana|yte[s] Interrogated
Sequenom CenLer for Molecular Medlclne Cysuc llbrosls Carrler Screenlng MALul-1Cl MS
1esLs for 103 known Cl muLauons and 3 varlanLs. rlmers
(AS8's) obLalned from lnLergraLed unA 1echnologles
Somauc MuLauon Analysls MALul-1Cl MS LCl8 12382A
Senslgene leLal 8Pu CenoLyplng 1esL MALul-1Cl MS
ueLecuon and analysls of clrculaung cell free feLal (cc)
nuclelc acld (8nA or unA) ln a pregnanL woman
leLal chromosomal aneuploldles MALul-1Cl MS
Analyzes Lhe relauve amounL of 21, 18, 13 and ?
chromosomal maLerlal ln clrculaung cell-free unA from a
maLernal blood sample
Labcorp (uS) regnenolone deLecuon for CAP (CongenlLal Adrenal Pyperplasla) LC/MS/MS

Cuanucauon of Lhe free acld, glyclne-con[ugaLe and Laurlne-con[ugaLe forms of
chollc acld, chenodeoxychollc acld, deoxychollc acld, and ursodeoxychollc acld. lor
Lhe lnvesugauon of obsLrucuve cholesLasls ln pregnancy. PLC/Landem mass specLromeLry
lree 1esLosLerone MeasuremenL for Androgen excess/declency deLecuon PLC/Landem mass specLromeLry
1esL performed by LsoLerlx lree 1hyroxlne & unbound poruon 1hyroxlne deLecuon Lu (Lqulllblrlum ulalysls)-PLC-MS/MS
1rllodoLhyronlne deLecuon for Pyper/PypoLhyroldlsm dlagnosls Lu (Lqulllblrlum ulalysls)-PLC-MS/MS 1rllodoLhyronlne
Lvaluauon of hypoLhalamlc-plLulLary-adrenal axls and plLulLary AC1P reserve. LC/MS/MS
ApparenL mlneralocorucold excess (AML) PLC/Landem mass specLromeLry
Sallvery Corusol 1esL - ulagnosls for Cushlngs Syndrome PLC/Landem mass specLromeLry Corusol
AldosLerone ueLecuon (ulagnosls of Conn Syndrome) PLC/Landem mass specLromeLry AldosLerone
Screenlng for lnborn errors of blle acld meLabollsm PLC/Landem mass specLromeLry
8lle Aclds - Chenodeoxychollc Acld, Chollc Acld,
ueoxychollc Acld and ursodeoxychollc Acld
newCene (uk 8ased) k8AS MuLauon 1esung - 1esL for 23 dlerenL muLauons
Mass Array Spec on a Sequenom MALul-1Cl
lauorm
Sn deLecuon - ln muluplex reacuons, followlng C8, an
ollgonucleoude ls exLended by a slngle base LhaL ls
speclc for Lhe wlld Lype or muLanL sequence aL each slLe
LCl8 - 1esL for sulLablllLy Lo recelve Ceunlb and Lrlounlb for nSCLC
lauorm Sn deLecuon
88Al (v600L) - 1esL for vemurafenlb LreaLmenL sulLablllLy
lauorm Sn deLecuon
redlcuve 1esung for Adverse urug 8eacuons 1M1 genoLyplng (AzaLhloprlne
Lherapy) - olymorphlsms ln Lhe Lhlopurlne meLhylLransferase Mass Spec on a Sequenom MALul-1Cl lauorm Sn deLecuon
ClS1 MuLauon Analysls - 1wo sLep screen Largeung Lhe mosL frequenLly muLaLed
parLs of Lhe ckl1 and uCl8A genes Mass Spec on a Sequenom MALul-1Cl lauorm Sn deLecuon
neoCen
LD1s 8ased on MS Detecnon, I
LD1s 8ased on MS Detecnon, II
Insntunon D|sease Area[s] Addressed MS 1echno|ogy Dep|oyed
ASk]Add|nona| Informanon on
Ana|yte[s] Interrogated
erkln Llmer (kl) Ceneucs
newborn Screenlng - Screen more Lhan 60 chemlcal relauonshlps ln 1 LesL
(lncludes lauy Acld Cxldauon and Amlno Acld ulsorders) 1andem Mass SpecLromeLry
ku 1andem Mass SpecLromeLry Levels of phenylalanlne and Lyroslne
MCAu declency and MAuu by analyslng CcLanoylcarnlune (C8) and
decanoylcarnlune 1andem Mass SpecLromeLry
ueLecuon of ralsed ocLanoylcarnlune (C8) levels
compared Lo unusual levels of decanoylcarnlune
C1 ll uelclency 1andem Mass SpecLromeLry
Long-chaln acylcarnlunes (l.e. C16, C18, C18:1 and
C18:2) noL denluve
1yroslnemla 1ype 1 presenLs wlLh progresslve hepaLorenal sympLoms 1andem Mass SpecLromeLry SucclnylaceLone & 1yroslne
Carnlune/Acylcarnlune 1ranslocase ueclency 1andem Mass SpecLromeLry
Llevauons of several long-chaln acylcarnlunes (l.e.
C16, C18, C18:1 and C18:2)
Carnlune almlLoyl 1ransferase ueclency 1ypel l (C1 l) 1andem Mass SpecLromeLry
ueLecLs Lhe elevauon of free carnlune and
reducuon of long-chaln acylcarnlunes (l.e. C16:0
and C18:0), resulung ln an lncreased rauo of free
carnlune Lo C16:0 and C18:0 acylcarnlunes.
3-Pydroxy Long Chaln Acyl-CoA uehydrogenase ueclency (LCPAu) 1andem Mass SpecLromeLry
ueLecLs elevaLed levels of several long chaln
hydroxyacylcarnlunes (C16-CP, C16:1-CP, C18-CP,
C18:1-CP, C18:2-CP, and generallzed C12 Lhrough
C14 specles)
2, 4-ulenoyl-CoA 8educLase ueclency 1andem Mass SpecLromeLry C10:2 acylcarnlune
Medlum Chaln Acyl-CoA uehydrogenase ueclency 1andem Mass SpecLromeLry
LlevaLed levels of ocLanoylcarnlune (C8
acylcarnlune), usually accompanled by decanoyl
(C10), hexanoyl (C6) and decenoyl (C10:1)
carnlune esLers
1rlfuncuonal roLeln ueclency 1andem Mass SpecLromeLry
Several long-chaln and hydroxy acylcarnlunes
(l.e. C16-CP, C16:1-CP, C16, C18-CP, C18:1-CP, and C18)
3-Pydroxy-3-MeLhylgluLaryl-CoA (PMC) Lyase ueclency 1andem Mass SpecLromeLry
LlevaLed slx-carbon dlcarboxyllc acylcarnlune (C6-
uC) and C3-hydroxy acylcarnlune (C3-CP)
CluLarlc Acldemla-1ype l (CA l) 1andem Mass SpecLromeLry
CluLarlc acld covalenLly bound Lo carnlune (C3-
dlcarboxyllc acylcarnlune, C3-uC)
lsobuLyryl-CoA uehydrogenase ueclency 1andem Mass SpecLromeLry LlevaLed 4-carbon acylcarnlune (C4)
lsovalerlc Acldemla (lvA) 1andem Mass SpecLromeLry LlevaLed ve-carbon acylcarnlune (C3)
MeLhylmalonlc Acldemlas 1andem Mass SpecLromeLry
LlevaLed Lhree-carbon acylcarnlune (C3) lndlcaLes
a posslble meLabollc defecL, elLher MMA or
roplonlc Acldemla.
roplonlc Acldemla (A) 1andem Mass SpecLromeLry acylcarnlune (C3)
Malonlc Acldurla 1andem Mass SpecLromeLry elevauon of malonyl-carnlune
Arglnlnemla 1andem Mass SpecLromeLry elevauons ln arglnlne ranglng from 3- Lo 10-fold
Arglnlnosucclnlc Acldurla 1andem Mass SpecLromeLry elevaLed levels of ClLrulllne
3Cxoprollnurla 1andem Mass SpecLromeLry
LlevaLed 3-Cxoprollne levels, lndlcaLes Lhe need
for furLher Lesung
Insntunon D|sease Area[s] Addressed MS 1echno|ogy Dep|oyed
Mayo Cllnlc (Mayo Medlcal
LaboraLorles) new8orn Screen Servlces 1andem Mass SpecLromeLry
CAP ulagnosls ln chlldren LC-MS/MS
AndrosLenedlone, requlres
measuremenL wlLh androgen precursors
(CPC, 17-alpha-hydroxypregnenolone)
Amlno Acld MeLabollsm 1andem Mass SpecLromeLry
1aurlne, Lhreonlne, serlne, asparaglne,
gluLamlc acld, gluLamlne, prollne,
alanlne, clLrulllne, alpha-amlno-n-
buLyrlc acld, vallne, cysune, meLhlonlne,
lsoleuclne, leuclne, Lyroslne,
phenylalanlne, beLa-alanlne, ornlLhlne,
lyslne, hlsudlne, arglnlnosucclnlc acld,
allo-lsoleuclne, arglnlne, phosphoserlne,
phosphoeLhanolamlne, hydroxyprollne,
glyclne, asparuc acld, eLhanolamlne,
sarcoslne, 1-meLhylhlsudlne, 3-
meLhylhlsudlne, carnoslne, anserlne,
homoclLrullne, alpha-amlnoadlplc acld,
gamma-amlno-n-buLyrlc acld, beLa-
amlnolsobuLyrlc acld, hydroxylyslne,
cysLaLhlonlne, and LrypLophan.
lauy Acld MeLabollsm 1andem Mass SpecLromeLry
SCAu declency, MCAu ueclency, 1l
ueclency, LCPAu ueclency, vLCAu
ueclency, C1-2, CAC1
Crganlc Acld MeLabollsm 1andem Mass SpecLromeLry
Insntunon D|sease Area[s] Addressed MS 1echno|ogy Dep|oyed ASk]Add|nona| Informanon on Ana|yte[s] Interrogated
2M AssoclaLes, lnc. newborn Screenlng Servlces
erkln Llmer Al2000 LC/MS/MS
SysLem
Amlno Acld MeLabollsm
SysLem
Arglnlnosucclnlc
Acldurla (ASA
Lyase ueclency) Pomocysunurla
PypermeLhlonl
nemlas
Maple Syrup
urlne ulsease
(MSuu)
henylkeLo
nurla (ku)
and oLher
hyperpheny
lalanlnemla
s 1yroslnemlas
lauy Acld MeLabollsm
SysLem
Carnlune/
Acylcarnlune
1ranslocase
ueclency
Medlum Chaln
Acyl-CoA
uehydrogenase
ueclency
(MCAu)
Muluple Acyl-
CoA
uehydrogenase
ueclency
(CluLarlc
Acldemla-1ype
ll)
neonaLal
Carnlune
almlLoyl
1ransferase
ueclency-
1ype ll (C1-
ll)
ShorL Chaln
Acyl-CoA
uehydroge
nase
ueclency
(SCAu)
1rlfuncuonal
roLeln
ueclency
(1l
ueclency)
Crganlc Acld MeLabollsm
SysLem
3-Pydroxy-3-
MeLhylgluLaryl-
CoA Lyase
ueclency (PMC)
lsovalerlc
Acldemla (lvA)
3-
MeLhylcroLonyl
-CoA
Carboxylase
ueclency
(3MCC
ueclency)
3-
MeLhylgluLac
onyl-CoA
PydraLase
ueclency
MeLhylmalo
nlc
Acldemlas
(MMA)
MlLochondrlal
AceLoaceLyl-
CoA 1hlolase
ueclency (3-
keLoLhlolase
ueclency)
MS 1echno|ogy
Dep|oyed
uenver Ceneuc LaboraLorles aedlaLrlc PepaLorenal 1yroslnemla CC/MS SucclnylaceLone
lmpalred funcuonlng of mlLochondrla - 8arLh Syndrome and ullaLed CardlomyopaLhy CC/MS 3-MeLhylgluLaconlc Acld
Amnlouc lluld and CuanuLauve dlagnosls of meLhylmalonlc acldemlas CC/MS MeLhylmalonlc Acld
17 oLher dlsorders - lauy Aclds, Amlno and Crganlc Acld MeLabollsm CC/MS
ulagnosls of LrlmeLhylamlnurla SLable lsoLope dlluuon Landem MS 1rlmeLhylamlne (1MA) and 1MA n-oxlde (1MAC)
Seaule Chlldrens PosplLal Crganlc Acld Analysls CC/MS
Acylcarnlune role 1andem Mass Spec
Lmory Ceneucs LaboraLory Acylcarnlune role - ulagnosls of lauy Acld and organlc acldemla dlsorders 1andem Mass Spec (MCAu, vLCAu, SCAu, MAu, LCPAu, and C1ll)
Auusm anel 1esung - 4 sLep process/3 sLeps lnvolve MS 1echnologles
Lysosomal SLorage ulsease Screen MALul-1Cl/1Cl
urlne ollgo/free glycan proles such as
glycosamlnoglycans
urlne Crganlc Aclds CC/MS
SmlLh-Lemll-CplLz Screen LC-MS/MS elevaLed 7-dehydrocholesLerol/cholesLerol rauos
CongenlLal dlsorders of Clycosylauon phosphomannomuLase declency, LLC declency
CongenlLal Adrenal Pyperplasla role LC-MS/MS 21-hydroxylase declency (21-CPu)
SalnL lrancls CenLer for
Ceneuc 1esung 23 - PydroxyvlLamln u ( u2 and u3 ) LC-MS/MS
Acylcarunes LC-MS/MS
Ampheumlne Conrmauon LC-MS/MS
8arblLuraLe Conrmauon LC-MS/MS
8enzodlazeplnes LC-MS/MS
Cannablnold (1PC) Conrmauon LC-MS/MS
Carlsorodol Conrmauon LC-MS/MS
Cllnlcal urlne urug Screen wlLh 8eex Lo Conrmauon LC-MS/MS
Cocalne Conrmauon LC-MS/MS
lree & 1oLal Carnlune LC-MS/MS
Lyserglc Acld uleLhylamlde (LSu) LC-MS/MS
MeLhadone Conrmauon LC-MS/MS
Mlscellaneous urug Conrmauon LC-MS/MS
CplaLe Conrmauon LC-MS/MS
Crganlc Aclds, urlne LC-MS/MS
hencyclldlne (C) Conrmauon LC-MS/MS
ku ManagemenL LC-MS/MS
MS 1echno|ogy
Dep|oyed ASk]Add|nona| Informanon on Ana|yte[s] Interrogated
?ale new Paven PosplLal
- ueparLmenL of Lab
Medlclne ueLecuon of lmmunosupressanL urugs
WaLers Cuauro Mlcro
Al 1andem Mass Spec
(M8M) Cyclosporln
8apamycln
1acrollmus
Ascomycln
Cocalne and CplaLe Conrmauon Assay
Cocalne CC/MS Abundance of 8L-1MS lons reveal cocalne usage
nMS Labs Anabollc SLerold Screen - urlne LC-MS/MS
8olasLerone, 8oldenone, ClenbuLerol, ClosLebol MeLabollLe, ClosLebol, urosLanolone
MeLabollLe, LplLesLosLerone, lluoxymesLerone, MeLhandlenone MeLabollLe, MeLhandlenone,
MeLhenolone, MeLhylLesLosLerone, nandrolone MeLabollLe, nandrolone, norandrosLenedlone,
noreLhandrolone MeLabollLe, noreLhandrolone, noreLhlndrone, Cxandrolone, CxymeLholone
MeLabollLe, robenecld, SLanozolol MeLabollLe, SLanozolol, 1esLosLerone / LplLesLosLerone
8auo, 1esLosLerone, 1eLrahydrogesLrlnone, 1renbolone MeLabollLe, 1urlnabol
CaLecholamlnes anel - haeochromocuLoma or
neuroendocrlne Lumour dlagnosls LC-MS/MS uopamlne, adrenallne, noradrenallne
Lplnephrlne LC-MS/MS Lplnephrlne
noreplnephrlne LC-MS/MS noreplnephrlne
uopamlne LC-MS/MS uopamlne
Addlsons ulsease and Cushlngs Syndrome LC-MS/MS Corusol
1herapeuuc drug monlLorlng of Aubaglo (lmmunomodulaLor) -
MS 1reaLmenL LC-MS/MS 1erlunomlde
PypoLhyroldlsm ulagnosls/ Craves ulsease and auLolmmune
dlsorders LC-MS/MS 8ound and free 13 (1rllodoLhyronlne)
ulagnose lnferullLy problems, early preganacy problems LC-MS/MS rogesLerone
Any addluonal 1hyrold dlsorders LC-MS/MS
3,3',3'-Lrllodo-L-Lhyronlne/ 3,3',3-Lrllodo-L-Lhyronlne/ 3,3'-dllodo-L-Lhyronlne/ 3-
lodoLhyronamlne/ 1hyroxlne/ 1rllodoLhyronlne reverse 13
neuroblasLoma ulagnosls ln chlldren LC-MS/MS vanlllylmandellc Acld ln urlne
olycysuc ovarlan syndrome,endomeLrlosls, Lurner syndrome
and hypoplLulLarlsm LC-MS/MS LsLrone levels
Cvarlan funcuon analysls and dlerenual dlagnosls of
amenorrhea LC-MS/MS LsLradlol levels
Plgh rlsk pregnancy monlLorlng LC-MS/MS LsLrlol levels
heochromocyLoma dlagnosls (Adrenal gland Lumour) LC-MS/MS MeLanephrlnes (MeLanephrlne/normeLanephrlne)
Carclnold Lumour dlagnosls (neuroendocrlne Lumours) LC-MS/MS 3-Pydroxylndoleaceuc Acld (PlAA)
Screen for a number of dlsorders, CsLeoporosls and bone
mlaformauon ln chlldren/ elevaLed levels can suggesL
Lymphoma or 1P problems LC-MS/MS 23-PydroxyvlLamln u2, 23-PydroxyvlLamln u3, 23-PydroxyvlLamln 1oLal
ulagnosls of erceule dysfuncuon, plLulLary dlsorders, lnferullLy
and hlrsulusm LC-MS/MS 8ound LesLosLerone and free LesLosLerone
Insntunon D|sease Area[s] Addressed MS 1echno|ogy Dep|oyed ASk]Add|nona| Informanon on Ana|yte[s] Interrogated
Arup LaboraLorles
(uLah 8ased)
1herapeuuc drug monlLorlng - osaconazole
(1rlazole Anufungal urug)
CuanuLauve Plgh erformance Llquld
ChromaLography-1andem Mass SpecLromeLry noxal and osaconazole quanuLauon

1herapeuuc drug monlLorlng - Cyclosporln A
(nonsLeroldal lmmunosuppressanL)
CuallLauve Llquld ChromaLography-1andem
Mass SpecLromeLry Cyclosporln levels

1herapeuuc drug monlLorlng - 8apamune and
8apamycln (nonsLeroldal
lmmunosuppressanL)
ChromaLography-1andem Mass SpecLromeLry Slrlllmus levels

1herapeuuc drug monlLorlng - (Sporanox
Anufungal urug)
ChromaLography-1andem Mass SpecLromeLry Anufungal serum level (llLranazole), PydroxylLraconazole

1herapeuuc urug MonlLorlng - (ulucan
AnLofungal urug)
ChromaLography-1andem Mass SpecLromeLry

1herapeuuc urug MonlLorlng - (Clpramll,
Celexa Anudepresslve)
ChromaLography-1andem Mass SpecLromeLry ClLalopram

ueLecuon of maLernal drug use durlng
preganacy uslng umblllcal cord ussue
CuallLauve Llquld ChromaLography-1lme of
lllghL Mass SpecLromeLry
Cpolds - buprenorphlne, codelne, fenLanyl, heroln (6-aceLylmorphlne), dlhydrocodelne,
hydrocodone, hydromorphone, meperldlne, meLhadone, morphlne, naloxone, nalLrexone,
oxycodone, oxymorphone, propoxyphene, LapenLadol, Lramadol / SumulanLs:
ampheLamlne, cocalne, meLhampheLamlne, MuMA (LcsLasy), MuLA (Lve), MuA,
phenLermlne / Sedauves-hypnoucs: alprazolam, amobarblLal, buLalblLal, clonazepam,
dlazepam, unlLrazepam, urazepam,lorazepam, mldazolam, nlLrazepam, nordlazepam,
oxazepam, phenobarblLal, secobarblLal, Lemazepam, Lrlazolam, zolpldem

urugs of abuse Lesung - CP8 uepressanL/
Sedauve
CuallLauve Cas ChromaLography-Mass
SpecLromeLry/CuanuLauve Cas
ChromaLography-Mass SpecLromeLry Camma-hydroxybuLyraLe levels
urug Screen anel
CuallLauve Cas ChromaLography-Mass
SpecLromeLry/CuanuLauve Cas
ChromaLography-Mass SpecLromeLry
AmpheLamlnes, MeLhampheLamlne, 8arblLuraLes, 8enzodlazeplnes, Cannablnolds, Cocalne,
MeLhadone, CplaLes, Cxycodone, hencyclldlne, ropoxyphene
8esldual/recurrenL 1hyrold cancer LC-MS/MS 1hyroglobulln
CAP anel, 11-8eLa Pydroxylase ueclency LC-MS/MS
AndrosLenedlone, 17-PydroxyprogesLerone, 1esLosLerone, 11-ueoxycorusol,
uehydroeplandrosLerone
Wllsons ulsease ulagnosls
CuanuLauve lmmunoLurbldlmeLry/CuanuLauve
lnducuvely Coupled lasma-Mass SpecLromeLry Copper, ceruloplasmln and free copper
Peavy MeLal anel
CuanuLauve ALomlc Absorpuon/CuanuLauve
lnducuvely Coupled lasma-Mass SpecLromeLry Arsenlc, Cadmlum, Mercury and Lead

Magneslum ueLecuon for kldney ulsease or
ulabeLes
CuanuLauve lnducuvely Coupled lasma-Mass
SpecLromeLry Magneslum
lmmunodlagnosuk
ueLecLs Pepcldln, lmpllcaLed ln renal fallure
and Lhe anemla of chronlc dlsease osluve LSl LC-MS/MS Pepcldln (pepude hormone)
vlLamln 812 ueclency negauve LSl LC-MS/MS MehLylmalonlc Acld ln urlne
Department]Insntunon D|sease Area[s] Addressed MS 1echno|ogy Dep|oyed
ASk]Add|nona| Informanon on Ana|yte[s]
Interrogated
Mlcroblology, 8arLs and 1he
London nPS 1rusL Mlcroblology MALul-1Cl SysLem
LxcellenL for Lhe ldenucauon for mosL bacLerlal specles.
Lxcepuons are L.Coll and Shlgella specles cannoL be dlerenuaLed
and SLrepLococcus pneumonlae cannoL be dlsungulshed from oLher
SLepLococcus Mlus/Cralls group
nauonal lnsuLuLes of PealLh
Cllnlcally Comprehenslve uaLabase and Slmple
rocedure for Lhe ldenucauon of Molds from Solld
Medla by MALul-1Cl MS MALul-1Cl MS
Comprehenslve daLabase comprlslng 294 lndlvldual lsolaLes Lo
rapldly ldenufy molds uslng MALul-1Cl MS.
uuke ueparLmenL of
edlaLrlcs (8lochemlcal
Ceneucs LaboraLory) newborn Screenlng
Acylcarnlunes - 8lood SpoL, lasma and Serum LSl 1andem Mass Spec
Looklng for dlsease speclc acylcarnlunes correlaung wlLh Lhe acyl-
CoA compounds accumulaung aL Lhe enzymauc block

Carnlune - aLhology of carnlune declency lncludes
muscle weakness, leLhargy, encephalopaLhy and
sudden deaLh LSl 1andem Mass Spec ueLecuon of Carnlune declency
Creaune & CuanldlnoaceLaLe
SLable lsoLope dlluuon LC
elecLrospray-MS/MS ueLecuon of Creaune, guanldlnoaceLaLe and creaunlne
ln vlLro robe 1esL for lauy Acld Cxldauon ulsorders 1andem Mass Spec
ueLecuon of meLabollLe pauerns compared Lo sLandard conLrol
pauerns
Crganlc Aclds CC/MS
Crganlc aclds are exLracLed from urlne by eLhyl aceLaLe and
derlvauzed as Lhelr eLhoxlme-LrlmeLhylsllyl analogs
S-sulfocysLelne - MeLabollc ulsorders LSl-MS/MS S-sulfocysLelne

urlne Clucose 1eLrasaccharlde - Clycogen SLorage
wlLhln Cardlac and SkeleLal muscle LSl-MS/MS wlLh M8M Pex4 concenLrauons are measured
Interrogated
ChenL unlverslLy, 8elglum 8acLerlal Specles ldenucauon MALul-1Cl MS LeuconosLoc, lracLobaclllus and LacLococcus
nauonal !ewlsh PealLh
1herapeuuc urug MonlLorlng for Lhe LreaLmenL
of 1uberculosls
1herapeuuc urug MonlLorlng - Cycloserlne CC/MS Cycloserlne
1herapeuuc urug MonlLorlng - LLhambuLol CC/MS LLhambuLol
1herapeuuc urug MonlLorlng - yrazlnamlde CC/MS yrazlnamlde
neuroendocrlne 1umor ulagnosls
(neuroblasLomas & heochromocyLoma) CuanuLauve PLC - MS/MS
ueLecLs lncreased levels of CaLecholamlnes and
MeLanephrlnes (noL consldered Lo be a rsL llne LesL ln Lhe
dlagnosls of neuroendocrlne dlsorders - Conrmauon of
dlagnosls
Cushlngs Syndrome, Adrenal and lLulLary
ulsorders CuanuLauve PLC - MS/MS Levels of free Corusol
vlLamln u dlsorders LC-MS/MS 23-PydroxyvlLamln u2 and u3
Clnclnnau Chlldrens
PosplLal - Cllnlcal Mass
SpecLromeLry LaboraLory 1herapeuuc urug MonlLorlng 1andem MS
1herapeuuc urug MonlLorlng - 8apamune &
8apamycln (non sLeroldal lmmunosupressanL) 1andem MS Slrollmus
1herapeuuc urug MonlLorlng 1andem MS 1acrollmus
1herapeuuc urug MonlLorlng - 1opamax 1andem MS lasma 1oplramaLe
1herapeuuc urug MonlLorlng 1andem MS 8lsperldone
MeLabollc ulsorders - 8lle acld SynLhesls lA8-MS urlnary deLecuon of lnborn errors ln blle acld synLhesls
MeLabollc ulsorders - 8lle acld SynLhesls CC/MS Serum 8lle aclds
Interrogated
CanLonal lnsuLuLe of
Mlcroblology
Mlcroblology
Shlmadzu Axlma
Condence MALul 1Cl
MS SLudy 182 cllnlcal lsolaLes
8acLerlal lnfecuon ulagnosls
Shlmadzu Axlma
Condence MALul 1Cl
MS
SLaphylococcus, SLrepLoccocus, AclneLobacLer,
CornebacLerlum, anLonea and Cardenella
lungal lnfecuon ueLecuon
Shlmadzu Axlma
Condence MALul 1Cl
MS
C. Alblcans, arapsldosls, uubllnlensls and a 129
morphologlcally and geneucally well characLerlzed
sLralns of Pypocrea and 1rldloderma
unlverslLy College London
- lnsuLuLe of Chlld PealLh
Screenlng for lnborn errors uslng lasma
8lle Acld Analysls CC/MS
Screenlng for lnborn errors uslng urlne 8lle
Acld Analysls LSl-MS/MS
SmlLh Lemll CplLz Syndrome /
uesmosLerolosls ulagnosls LSl-MS/MS
7-dehydrocholesLerol and CholesLane-penLol
glucuronlde
lasma sLerol analysls for lnborn errors of
cholesLerol synLhesls or phyLosLerolaemla CC/MS SlLosLerol - hyLosLerolaemla
yrldoxlne-dependenL selzures (uS) -
Lpllepsy LSl-MS/MS Alpha Amlno Adlplc Semlaldehyde (AASA)
Department]Insntunon D|sease Area[s] Addressed
MS 1echno|ogy
Dep|oyed
Interrogated
klngs College PosplLal
MoM prosLhesls fallure/Locallsed ussue reacuons assoclaLed wlLh
Lhe release of paruculaLe meLal lons durlng aruculauon. lC-MS CobalL (Co) and Chromlum
1herapeuuc urug MonlLorlng - of CellCepL and Myforuc used ln
lmmunosuppresslon (Cold SLandard 1esL) LC-MS/MS
Whole blood concenLrauons of mycophenollc
acld
1herapeuuc urug MonlLorlng - 8apamune used ln
lmmunosuppresslon (Cold SLandard 1esL) LC-MS/MS Slrollmus
1herapeuuc urug MonlLorlng - rograf and Advagraf used ln
lmmunosuppresslon (Cold SLandard 1esL) LC-MS/MS 1acrollmus
1herapeuuc urug MonlLorlng - neoral, Sandlmmun and SangCyA
used ln lmmunosuppresslon (Cold SLandard 1esL) LC-MS/MS Cyclosporln and Cyclosporlne
1herapeuuc urug MonlLorlng - Cerucan used ln
lmmunosuppresslon. 1here ls an alLernaLe formulauon (AnlLor)
for use as an anuLumour agenL (Cold SLandard 1esL) LC-MS/MS Lverollmus
Cushlngs Syndrome PLC-MS/MS urlne Corusol
1herapeuuc urug MonlLorlng - lluconazole ln Lhe LreaLmenL of
lnvaslve fungal lnfecuons
1urbulenL ow llquld
chromaLography-Landem
mass specLromeLry lasma 1rlazole Anufungal Assay
1herapeuuc urug MonlLorlng - vorlconazole ln Lhe LreaLmenL of
1urbulenL ow llquld
mass specLromeLry lasma vorlconazole concenLrauons
1herapeuuc urug MonlLorlng - osaconazole ln Lhe LreaLmenL of
1urbulenL ow llquld
mass specLromeLry osaconazole
1herapeuuc urug MonlLorlng - lLraconazole ln Lhe LreaLmenL of
1urbulenL ow llquld
mass specLromeLry lLraconazole
1herapeuuc urug MonlLorlng - 1yroslne klnase lnhlblLors
(1reaLmenL of PaemaLologlcal Mallgnancles) LC-MS/MS
uasaunlb, Lrlounlb, Ceunlb, lmaunlb/
norlmaunlb, Lapaunlb, nllounlb, Sorafenlb,
Sunlunlb
1herapeuuc urug MonlLorlng - Cueuaplne (a dlbenzoLhlazeplne)
schlzophrenla LreaLmenL LC-MS/MS
Cueuaplne and Lhe followlng meLabollLes:
sulfoxlde, 7-hydroxy, n-desalkyl, C-desalkyl,
and 7-hydroxy-n-desalkyl
MS 1echno|ogy
Dep|oyed
Interrogated
8C 8lomedlcal
LaboraLorles - Canada Mlcroblology/aLhogen ldenucauon MALul 1Cl
Cram negauve bacLerla, gram posluve,
anaerobes and yeasL
urugs of abuse Screenlng CC/MS
Screenlng and auLomauc conrmauon of
posluve resulLs by CCMS
Accugenlx Mlcroblal aLhogen ueLecuon
8oyal Clamorgan
PosplLal Mlcroblal aLhogen ueLecuon - ln a sLandard workow MALul-1Cl
used ln Lhe deLecuon of all mlcroblal
paLhogens aparL from 8/C, Mulu 8eslsLanL
Crganlsms and SLerlle SlLes, Salmonella &
Shlgella and L.Coll 0137
PA - Cambrldge
Addenbrooks Mlcroblal aLhogen ueLecuon - ln a sLandard workow MALul-1Cl
PA - Collngdale Mlcroblal aLhogen ueLecuon - ln a sLandard workow MALul-1Cl
8lrmlngham PearLlands Mlcroblal aLhogen ueLecuon - ln a sLandard workow MALul-1Cl
SouLhampLon Mlcroblal aLhogen ueLecuon - ln a sLandard workow MALul-1Cl
8oLherham nPS
loundauon 1rusL CasLroenLerology - SLable lsoLope 8reaLh 1esL
lsoLope 8auo Mass
SpecLromeLer
nauonal PealLh Servlce -
uk newborn Screenlng
SLandardlzed and valldaLed proLocols
LhroughouL Lhe nPS by Lhe uk newborn
Screenlng CenLer
henylkeLonurla
LC-MS/MS ln M8M
mode 1yroslne, henylalanlne
MCAu declency and MAuu by analyslng CcLanoylcarnlune (C8)
and decanoylcarnlune
LC-MS/MS ln M8M
mode
MS 1echno|ogy
Dep|oyed
Interrogated
unlverslLy PosplLal 8asel Sepucemla/Sepsls ulagnosls C8 - LSl-MS/MS
1hls Lechnlque uses prlmers
deslgned Lo genomlc reglons hlghly conserved
across Lhe bacLerlal and fungal domalns
Chlldren's lnfecuous
ulseases ulvlslon and a
u1 SouLhwesLern
Medlcal CenLer SLaph lnfecuons MALul-1Cl MS
lnfecuous exacerbauons of cysuc brosls MALul-1Cl MS
C. pseudodlphLherlucum sLralns,
SLaphylococcus aureus, seudomonas
aeruglnosa, Paemophllus lnuenzae, and
8urkholderla cepacla complex
Salmonella MALul-1Cl MS ueLecL and Lype Salmonella specles
8acLerlal neumonla MALul-1Cl MS
L.Coll MALul-1Cl MS
?easL lnfecuons MALul-1Cl MS
uuzen LaboraLory -
1urkey Acylcarnlune role LSl-MS/MS
Llevauons of several long-chaln acylcarnlunes
(l.e. C16, C18, C18:1 and C18:2)
remaLure sexual developmenL LC-MS/MS 11-deoxycorusol
lnsuLuLe for Molecular
Medlclne llnland Sn
Sequenom lLLx Cold
(MALul-1Cl)
up Lo 36 Sns can be slmulLaneously assayed
ln one muluplex wlLh sLandardlzed condluons.
In Summary
1h|s GLN keport prov|des a snapshot of the qua||tanve
trends |n the mass spectrometry spacefocus|ng on
the var|ous LD1s that have been deve|oped based upon
mass spectrometry as a readout
1here are many LD1s based on mass spectrometry
current|y address|ng a number of ana|ytes
1he cha||enge has been the trans|anon of these LD1s
|nto IDA-approved !"#$ &'( d|agnosnc tests [IVDs]
1hls wlll be addressed ln our nexL reporL on Lhls space

GEN Biomarket Trends Report LDTs Based On Mass Spec

Uploaded by

Document Information

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

GEN Biomarket Trends Report LDTs Based On Mass Spec

Uploaded by

Copyright:

Available Formats

GLNkeports: Market & 1ech Ana|ys|s, roduced by Lnal 8azvl, h.u. 2014 GLNengnews.

You might also like