Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Full A-Z List of Genetic Tests

SHEFFIELD DIAGNOSTIC GENETICS SERVICE
You can search for a test by typing into the ‘Find’ facility in the toolbar above and pressing enter. Click the
‘Find next’ icon to locate multiple entries within the document.
*Gene content for Next Generation Sequencing (NGS) panels can be referenced at:
https://www.sheffieldchildrens.nhs.uk/sdgs/next-generation-sequencing/

FISH tests listed under “F” starting with constitutional FISH tests listed by chromosome number 1-22,X,Y,
followed by oncology FISH tests listed A-Z by gene name.
** Our turnaround times are listed here based on the recommendations of the Association for Clinical Genetic Science
(http://www.acgs.uk.com/media/949852/acgs_general_genetic_laboratory_reporting_recommendations_2015.pdf) and are in
calendar days. These may be altered locally based on specific Service Level Agreement or clinical urgency.
Turnaround
Test Specimen Type Volume Notes/Comments
Time**
Achondroplasia,
hypchondroplasia and Blood 0.5-5ml 2-6 weeks
thanatophoric dysplasia
0.25-1ml BM in 5-10ml of
Acute Lymphoblastic Leukaemia Bone marrow/
transport medium 14 days
(ALL) + FISH leukaemic blood
OR 1ml BM/VB in Li Hep
0.25-1ml BM in 5-10ml of
Acute Myeloid Leukaemia (AML) (+/- Bone marrow/
transport medium 14 days
FISH) leukaemic blood
OR 1ml BM/VB in Li Hep
Adrenoleukodystrophy (ALD)
Blood 0.5-5ml EDTA 2-6 weeks
(X-linked)
ALK Breakapart FISH (2p23) for lung PETS 2x4µm
7 days
cancer – FISH only sections on slides
Alpha thalassaemia Blood 0.5-5ml EDTA 2-4 weeks
Alport Syndrome sequencing panel Blood 0.5-5ml EDTA 2-6 Weeks
Alveolar rhabdomyosarcoma – FISH PETS 2x4µm
14 days
only sections on slides
Anaplastic large cell lymphoma, ALK PETS 2x4µm
21 days
positive – FISH only sections on slides
Androgen Insensitivity Syndrome
Blood 0.5-5ml EDTA 2-6 weeks
(Testicular Feminisation)
Antithrombin Deficiency Blood 0.5-5ml EDTA 2-6 weeks
10-20ml sterile universal /
Amniotic fluid / 3-4 fronds sterile universal in
Aneuploidy Detection QF-PCR 3 days
chorionic villus
CVS culture medium
Amniotic fluid
Aneuploidy FISH test 2-5ml in sterile universal 2-3 days
sample
Apolipoprotein E (APOE) ) / Type III
Blood 0.5-5ml EDTA 4 weeks
Hyperlipoproteinaemia – E2 allele
Array CGH (see microarray) - - -
Ataxia Next Generation Sequencing
panel (Please see Hereditary Ataxia - - -
panel)
Known mutations
10-20ml sterile universal / only, in
Ataxia telangiectasia/ATR-Seckel Amniotic fluid / 3-4 fronds sterile universal in collaboration with
3 days
syndrome prenatal testing chorionic villus Institute of Cancer
CVS culture medium Studies,
Birmingham

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Author: Sarah Aspey Authorised by: Richard Kirk
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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Bernard-Soulier syndrome (GP1BA,

Blood 0.5-5ml EDTA 2-6 weeks
GB1BB, GP9)
Blood / Bone Send to Lab
BCR-ABL1 Quantitation (RQ-PCR) 0.5-5ml EDTA 14 days
marrow immediately
BCR-ABL1 Tyrosine kinase domain Blood / Bone Send to Lab
0.5-5ml EDTA 21 days
(TKD) analysis (Sanger sequencing) marrow immediately
Beta thalassaemia Blood 0.5-5ml EDTA 2-4 weeks
PETS 2x4µm
Bladder cancer –FISH only 21 days
sections on slides
Inform lab prior to
Blooms syndrome Blood 3-4ml Li Hep 28 days
sample dispatch
Bone marrow failure Next Generation
Sequencing panel*
- Diamond-Blackfan anaemia
- Dyskeratosis congenital *see website for
- Fanconi anaemia panel content.
Blood 0.5-5ml EDTA 6-12 weeks
- Myelodysplastic syndrome Sub-panels
- Severe congenital available
neutropenia
- Thrombocytopenia with
absent radii
BRAF (V-raf murine sarcoma viral
PETS 8x10µm
oncogenes homolog B1) mutations
sections in 7 days
affecting codon 600 in melanoma and
universal
colorectal cancer
6 weeks full
Hereditary Breast & Ovarian Cancer
screen, 2 *see website for
(BRCA1, BRCA2 & PALB2) Next Blood 0.5-5ml EDTA
weeks panel content
Generation Sequencing* & MLPA
predictive
PETS 2x4µm Contact Lab prior to
Breast Cancer (Her2) - FISH only 7 days
sections on slides referral
Hereditary Breast & Ovarian Cancer *see website for
Blood 0.5-5ml EDTA 12 weeks
Extended Gene Panel* panel content

Bruck syndrome (PLOD2) Blood 0.5-5ml EDTA 2-6 weeks

PETS 2x4µm
Burkitt lymphoma –FISH only 21 days
sections on slides

CALR Exon 9 mutation screen Blood/Bone marrow 0.5-5ml EDTA 2 weeks

Carnitine Acylcarnitine Translocase Blood or
0.5-5ml EDTA 2-6 weeks
(CACT) Deficiency Fibroblasts
Carnitine Palmitoyl Transferase
Type2 (CPT2) Deficency
Blood or
- c.338C>T p.Ser113Leu 0.5-5ml EDTA 2-6 weeks
Fibroblasts
common mutation
- Full sequencing
Cartilage-associated protein (CRTAP)
Blood 0.5-5ml EDTA 2-8 weeks
-autosomal recessive OI.
Cerebral AD Arteriopathy with
Subcortical Infarcts & Blood 0.5-5ml EDTA 2-6 weeks
Leukoencephalopathy (CADASIL)

CGH/microarray –see microarray - - -

Chimerism post bone marrow/stem 0.5-5ml EDTA

cell transplant (Sex matched/ Blood/Bone marrow (see below if lineage-specific 7 days
Powerplex) analysis required)

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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Chimerism post bone marrow/stem 2-3ml Li Hep

cell transplant (Sex mis-matched Blood/Bone marrow (see below if lineage-specific 7 days
(FISH)) analysis required)

Chimerism if lineage-specific analysis

0.5-1ml EDTA
required (MACS separated fraction Blood only 7 days
(IN ADDITION TO ABOVE)
e.g. CD3+)
Blood preferable
Chimerism Pre transplant DNA but other samples
0.5-5ml EDTA -
storage (donor or recipient) can be processed
e.g. buccal swabs

Chromosome – Adult (with or without

Blood 2-3ml Li Hep 28 days
FISH)

Chromosome – Child (with or without

Blood 1-2ml Li Hep 28 days
FISH)

* smaller samples
can be attempted
Chromosome – Neonate Blood 0.5 – 1ml* Li Hep 10 days but may reduce the
likelihood of a
successful result
Chromosome (with or without FISH) Amniotic Fluid
10-20ml sterile universal 14 days
PRENATAL sample
Chromosome (with or without FISH) 3-4 fronds sterile universal in
CVS 14 days
PRENATAL CVS culture medium
Chromosome (with or without FISH) Fetal blood
0.5-1ml Li Hep 10 days
PRENATAL cordocentesis
Chromosome (with or without FISH)
Cord blood 1-3ml Li Hep 10 days
POSTNATAL
Placental biopsy at See our “additional
cord insertion site, information” page
Chromosome (with or without FISH) <1cm cubed Sterile tissue
fetal membrane, 28 days for information
FETAL LOSS culture medium pots
villi and cord regarding sending
biopsies samples
1-2mm cubed
Chromosome (with or without FISH) Skin biopsy Sterile tissue culture medium 2-3 weeks
pots
Solid Tumour <1cm cubed Universal with 5-
Chromosome (with or without FISH) 21 days
Biopsy 10ml of transport medium
Universal with 5-10ml of
Chronic Lymphoproliferative Bone marrow/
transport medium 21 days
Leukaemia (CLL) –FISH leukaemic blood
OR BM/VB Li Hep
If blood ONLY then
FISH result will be
Chronic Myeloid Leukaemia (CML) 0.25-1ml BM in 5-10ml of
Bone marrow issued and bone
Karyotyping &/or BCR-ABL1 FISH (at transport medium 7 days
/leukaemic blood marrow sample
diagnosis) OR 1ml BM/VB in Li Hep
requested for
karyotyping
Chronic Myeloid Leukaemia (CML) 0.25-1ml BM in 5-10ml of
Bone marrow
Karyotyping &/or BCR-ABL1 FISH transport medium 14 days
/leukaemic blood
(monitoring) OR 1ml BM/VB in Li Hep
Collagen 6 related myopath panel Blood 0.5-5ml EDTA 2-6 Weeks
Colorectal Cancer (HNPCC/FAP) *see website for
Blood 0.5-5ml EDTA 12 weeks
Extended Gene Panel* panel content
*see website for
Connective Tissue Disorders Next panel content
Blood 0.5-5ml EDTA 12 weeks
Generation Sequencing Panel Sub-panels
available
Congenital thrombotic
Blood 0.5-5ml EDTA 2-6 weeks
thrombocytopenic purpura

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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

(ADAMTS13 deficiency)
2-6 weeks
Crigler-Najjar Syndrome types I and II Blood 0.5-5ml EDTA

cfDNA testing for EGFR mutations Peripheral blood 10ml PB in Streck/Paxgene 7 days Preservative tubes
(Relapse or diagnostic) preservative tubes can be supplied by
the laboratory if
required. Contact
lab prior to sending
Cutis Laxa sequencing panel Blood 0.5-5ml EDTA 2-6 weeks
Blood or Dried
Cystic fibrosis – 50-mutatIon panel 0.5-5ml EDTA 2 weeks
bloodspots
Cystic fibrosis – newborn screening
- 4-mutation and 50-mutation Dried bloodspots 0.5-5ml EDTA 4 days
panels
Cystic fibrosis – newborn screening
NGS pilot study Dried bloodspots 0.5-5ml EDTA 4 days
- NGS panel (332 mutations)
Dementia Next Generation * see website for
Blood 0.5-5ml EDTA 12 weeks
Sequencing Panel* panel content
Dentatorubral-pallidoluysian atrophy
Blood 0.5-5ml EDTA 4 weeks
(DRPLA)

Dermatofibrosarcoma protuberans – PETS 4x4µm

21 days
FISH only sections on slides

Diamond Blackfan Anaemia (RPS19) Blood 0.5-5ml EDTA 2-8 weeks

Diamond Blackfan Anaemia (dosage
Blood 0.5-5ml EDTA 8 weeks
testing by MLPA)
Dopa-responsive dystonia (Segawa
Blood 0.5-5ml EDTA 2-8 weeks
syndrome), dominant
DYPD Blood 3-5mL EDTA 3 days
Dystonia and Parkinsonism Next *see website for
Blood 0.5-5ml EDTA 12 weeks
Generation Sequencing Panel* panel content
Dystonia 1 (DYT1) or Idiopathic
Blood 0.5-5ml EDTA 4 weeks
Torsion Dystonia, dominant
Dystrophia myotonica (DM) Blood 0.5-5ml EDTA 4 weeks
PETS 8x10µm EGFR testing form
EGFR (exons 18-21) sections in 7 days required please
universal contact laboratory
8 weeks full
Ehlers Danlos Next Generation
screen, 2 *see website for
Sequencing Panels* (Vascular, Blood 0.5-5ml EDTA
weeks panel content
Classic and Kyphoscoliotic)
predictive
Ehlers-Danlos Syndrome Classical
Blood 0.5-5ml EDTA 2-6 weeks
(COL5A1 and COL5A2)
Ehlers-Danlos Syndrome -
Blood 0.5-5ml EDTA 2-6 weeks
Hypermobile (TNXB)
Ehlers-Danlos Syndrome - KMH
Blood 0.5-5ml EDTA 2-6 weeks
(FKBP14)
Ehlers-Danlos Syndrome -
Blood 0.5-5ml EDTA 2-6 weeks
Kyphoscoliotic (PLOD1)
Ehlers-Danlos Syndrome -
Blood 0.5-5ml EDTA 2-6 weeks
Musculocontractural (CHST14)
Ehlers-Danlos Syndrome - vascular
Blood 0.5-5ml EDTA 2-6 weeks
(COL3A1)
Ehlers-Danlos Syndrome -
arthrochalasic (COL1A1 and Blood 0.5-5ml EDTA 2-6 weeks
COL1A2)
PETS 4x4µm
Endometrial stromal tumours – FISH 14 days
sections on slides

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Author: Sarah Aspey Authorised by: Richard Kirk
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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Episodic ataxia type 1 Blood 0.5-5ml EDTA 2-8 weeks

Episodic ataxia Next Generation
Blood 0.5-5ml EDTA 8 weeks
Sequencing panel
Ewings sarcoma and rearrangements
of EWSR1 associated with clear cell
PETS 2x4µm
sarcoma, extraskeletal myxoid 21 days
sections on slides
chondrosarcoma and desmoplastic
small round cell tumour – FISH only
Factor V deficiency (F5) Blood 0.5-5ml EDTA 2-6 weeks
Factor XIII Deficiency Blood 0.5-5ml EDTA 2-6 weeks
Factor XI Deficiency (Haemophilia C) Blood 0.5-5ml EDTA 2-6 weeks
6 weeks full
Familial Adenomatous Polyposis Coli
screen, 2 *see website for
(FAP) & MUTYH Gene Panel (APC & Blood 0.5-5ml EDTA
weeks panel content
MUTYH sequencing and MLPA)*
predictive
Familial Amyotrophic Lateral
Sclerosis with or without *see website for
Blood 0.5-5ml EDTA 12 weeks
Frontotemporal Dementia 42 gene panel content
Next Generation Sequencing Panel*
Familial hemiplegic migraine Next *see website for
Blood 0.5-5ml EDTA 8 weeks
Generation Sequencing panel panel content
Familial hypercholesterolaemia
(APOE, LDLR, APOB, PCSK9 and
Blood 0.5-5ml EDTA 2-6 weeks
LDLRAP1 sequencing and LDLR
MLPA
Familial motor neurone disease /
amyotrophic lateral sclerosis with or
Blood 0.5-5ml EDTA 4 weeks
without frontotemporal dementia
(ALS/FTD) C9orf72 gene
Familial motor neurone disease /
amyotrophic lateral sclerosis (ALS) Blood 0.5-5ml EDTA 2-8 weeks
SOD1 gene
6 weeks full
Familial Porencephaly (COL4A1 & *see website for all
screen, 2
COL4A2) by Next Generation Blood 0.5-5ml EDTA CTD NGS panels &
weeks
Sequencing content
predictive
*see website for all
Familial Thoracic Aortic Aneurysms
Blood 0.5-5ml EDTA 12 weeks CTD NGS panels &
Next Generation Sequencing Panel
content
Fanconi Anaemia (Chromosome Inform lab prior to
Blood 3-4ml Li Hep 28 days
Breakage Studies) sample dispatch
Fanconi Anaemia by Next *see website for
Blood 0.5-5ml EDTA 12 weeks
Generation Sequencing (16 genes) panel content
* see website for
Fatty acid metabolism disorders Next panel content.
Blood 0.5-5ml EDTA 12 weeks
Generation Sequencing Panel Sub-panels
available
Fibrinogen disorders (FGA, FGB,
Blood 0.5-5ml EDTA 2-6 weeks
FGG)

FISH CONSTITUTIONAL FISH TESTS Gene Comments

In Chromosome Order 1-22,X,Y
1p36.33 microdeletion syndrome (inc. hypertrichotic Terminal and interstitial
CEB108/T7 and D1Z2
osteochondrodysplasia) deletions detected
2q37.3 Brachydactyly-mental retardation microdeletion
syndrome (inc. Albright hereditary osteodystrophy (AHO)- D2S447
like metacarpal/metatarsal shortening)

4p16.3 Wolf-Hirschhorn microdeletion syndrome WHSC1

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Author: Sarah Aspey Authorised by: Richard Kirk
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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

5p15.3 Isolated Cat Cry microdeletion syndrome (ICS) and FLJ25076 (ICS) and CTNND2 (CDC)
5p15.2 Cri Du Chat microdeletion syndrome (CDC) respectively

5q35 Sotos microdeletion syndrome NSD1

7q11.23 Williams microdeletion syndrome ELN

7q11.23 microduplication syndrome (inc. speech delay,

ELN
ADHD)
8q12.1-12.2 CHARGE microdeletion syndrome (inc. ocular
coloboma, heart defects of any type, atresia of the CHD7
choaneae, retardation, genital and ear anaomalies)
8q23.3-8q24.1 Langer-Giedion microdeletion syndrome (inc.
trichorhinophalangeal syndrome type 1 and multiple TRPS1 and EXT1 respectively
cartilaginous exostoses)
9q34.3 Kleefstra microdeletion syndrome (inc. craniofacial
features, hypotonia, obesity, microcephaly and speech D9S325
delay)
st
15q11.2 Prader-Willi microdeletion/ microduplication For 1 line test see molecular
SNRPN
syndrome genetic referral
st
For 1 line test see molecular
15q11.2 Angelman microdeletion syndrome D15S10/UBE3A
genetic referral
16p13.3 Rubenstein-Taybi microdeletion syndrome (inc.
short stature, talon cusps, patellar dislocation, broad thumbs CREBBP
and big toes)
17p13.3 Miller-Dieker microdeletion syndrome LIS1 (PAFAH1B1)
17p11.2 Smith-Magenis microdeletion syndrome RAI1
17p11.2 Potocki-Lupski microduplication syndrome (inc.
neonatal hypotonia, sleep apnea, hyperactivity, structural RAI1
cardiovascular abnormalities)
17q11.2 NF1 (Von Recklinghausen) microdeletion syndrome NF1 (RP1-4C23) Home grown
17q21.31 microdeletion syndrome (inc. neonatal hypotonia,
MAPT
developmental delay and speech delay)
22q11.2 DiGeorge/VCFS microdeletion or microduplication
TBX1
syndrome
N85A3 is the control
22q13.3 Phelan-McDermid microdeletion syndrome (inc.
N85A3 sequence for TBX1
neonatal hypotonia, absent or delayed speech)
Xp22.3 or Yp11.32 Leri-Weill Dyschondrosteosis inc. short
stature and madelung deformity (heterozygous Located in the PAR1
microdeletion syndrome) or Langer Mesomelic Dysplasia SHOX pseudoautosomal regions of
inc. severe short stature and skeletal abnormalities both X and Y chromosomes
(homozygous microdeletion syndrome)
Xp22.3 Kallmann microdeletion syndrome (inc.
ANOS1
hypogonadotrophic hypogonadism and anosmia)
Xp22.3 Steroid Sulphatase Deficiency microdeletion
STS
syndrome inc. X-Linked Ichthyosis
Critical for the determination
Xq13.2 X inactivation centre deletion XIST of phenotypic severity of
abnormal X chromosomes
Yp11 Swyer microdeletion syndrome (XY female) and
detection of unbalanced t(X;Y) leading to XX with male SRY Sex determining region
phenotype
XCEN/YCEN/18CEN/13q14/21q22.13-q22.2 Sex
DXZ1/DYZ3/D18Z1/RB1/D21S342, Common aneuploidy
chromosome aneuploidy, Edward, Patau and Down
D21S341,D21S259 detection
syndrome

FISH ONCOLOGY FISH TESTS Location or Rearrangement Comments

A-Z by gene name
ABL1 breakapart 9q34.12 All variants
ABL2 breakapart 1q25.2 All variants
AFF1 (MLLT2) / KMT2A dual fusion 4q21-22/11q23

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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

ALK breakapart 2p23 All variants

ALK/EML4 dual fusion inv(2)(p21p23)
BCL2 breakapart 18q21 All variants

BCL6 breakapart 3q26.2 All variants

Tricolour –Complex deletion

BCR/ABL1/ASS1 dual fusion t(9;22)(q34;q11) rearrangement pattern
monitoring possible
3, 7 and 17 aneuploidy
BLADDER PANEL single locus
3CEN/7CEN/9p21/17CEN detection and 9 short arm
D3Z1/D7Z1/CGKN2A/D17Z1
deletion detection
CBFB breakapart 16q22 All variants
CBFB/MYH11 dual fusion inv(16)(p13q22) and t(16;16)(p13;q22)
CCND1 breakapart 11q13 All variants
CCND1 amplification
CCND1/D11Z1 single locus 11q13/11CEN
detection
CDKN2C(p18)/CKS1B amplification in MM single locus 1p32.3/1q21 CDKN2C deletion / CKS1B
CERVICAL PANEL single locus Detection of hTERC and/or
hTERC/MYC/D7Z1 3q26.2/8q24/7CEN MYC gain
CDKN2A/CEN9 single locus 9p21/9CEN Short arm deletion detection
CHD5/1qter single locus 1p36 Short arm deletion detection
CLL PANEL single locus
Deletion detection
MIX 1 - ATM/TP53 11q22.3/17p13.1 Aneusomy 12 and aneusomy
13 or heter/homozygous long
MIX 2 – D12Z3/D13S319/13q34 12CEN/13q14.3/13q34 arm deletion detection

CRLF2 XP22.3 and Yp11.3

D1Z2 single locus 1p36 Short arm deletion detection
D8Z2 single locus 8CEN Aneusomy 8 detection
D12Z3 single locus 12CEN Aneusomy 12 detection
Monosomy or long arm
D13S25 single locus 13q14
deletion detection
Monosomy or long arm
D13S319 single locus 13q14
deletion detection
Monosomy or long arm
D20S108 single locus 20q12
deletion detection
DDIT3 breakapart 12q13 All variants Formerly CHOP
DEK/NUP214 dual fusion t(6;9)(p22;q34)
Detection of
Dermatofibrosarcoma protruberans panel chromosomes t(17;22)(q22;q13) and
17q22 and 22q13
COL1A1 and PDGFB breakapart amplification in
supernumerary ring
DXZ1/DYZ3 single locus XCEN/YCEN Sex mismatched monitoring
Monosomy or long arm
EGR1/D5S23,D5S721 5q31/5p15.2
deletion detection
EML4 breakapart 2p21 All variants
ETV6 breakapart 12p13 All variants
ETV6/RUNX1 dual fusion t(12;21)(p13;q22) Formerly TEL/AML1
EWSR1 breakapart 22q12 All variants
EWSR1/FLI1 dual fusion t(11;22)(q24;q12)
All variants and FGFR1
FGFR1/D8Z2 breakapart + single locus 8p11/8CEN
amplification
All variants Formerly FKHR
FOXO1 breakapart 13q14
See also PAX3
FUS breakapart 16p11 All variants
GLIOMA PANEL single locus
Mix 1 –
1p36/1q25
EGFL3,TP73/ANGPTL1,ABL2 Loss of 1p relative to 1q and
Mix 2 - ZNF44,ZK1,MAN2B1/GLTSCR1+2,CRX loss of 19q relative to 19p
19p13/19q13
HER2/D17Z1 single locus 17q11.2-q12 HER2 amplification detection

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 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

17q11.2-q12/ HER2 amplification detection

HER2/TOP2A/D17Z1 single locus
17q21-22/17CEN and TOP2A deletion
IGH breakapart 14q32 All variants
IGH/BCL2 dual fusion t(14;18)(q32;q21)
IGH/CCND1,MYEOV dual fusion t(11;14)(q13;q32)
IGH/FGFR3 dual fusion t(4;14)(p16;q32)
IGH/MAF dual fusion t(14;16)(q32;q23)
IGH/MAFB dual fusion t(14;20)(q32.33;q11.1-q13.1) MM
IGH/MYC/D8Z2 dual fusion t(8;14)(q24;q32) Aneusomy 8 also detected
IGK breakapart 2p12 All variants
IGL breakapart 22q11 All variants
IRF4/DUSP22 breakapart 6p25.3 All variants
JAZF1 breakapart 7p15.1-2 All variants
KMT2A breakapart 11q23 All variants
MALT breakapart 18q21 All variants
MAML2 breakapart 11q21 All variants
MDM2/D12Z1 single locus 12q14.3-q15/12CEN MDM2 amplification detection
Tricolour
MECOM 3q26.2
All variants
MELANOMA PANEL single locus
D6Z1/RREB1/MYB/CCND1 6CEN/6p25/6q23/11q13
MYB single locus 6q23 Long arm deletion detection
MYC breakapart 8q24 All variants
Detection of gain of 8q24
MYC/D8Z2 single locus 8q24/8CEN
relative to 8CEN
N-MYC amplification
MYCN/D2Z1 single locus 2p24/2CEN
detection
NUP98 breakapart 11p15 AML, ALL, CML-bc
All variants
PAX3 breakapart 2q35
See also FOXO1
PBX1/HLF/TCF3 dual fusion t(1;19)(q23;p13.3)/t(17;19)(q22;p13.3) ALL
4q12 FIP1L1/CHIC2/PDGFRA Tricolour
PDGFRA /LNX/ SCFD2 breakapart
rearrangement All variants
PDGFRB breakapart 5q32 All variants
PIK3CA amplification
PIK3CA single locus 3q26.32
detection
PML/RARA dual fusion t(15;17)(q22;q21)

PROSTATE PANEL Mix 1 – Tricolour, all variants

21q22
Mix 1 – TMPRSS2/ERG breakapart Mix 2 - Long arm deletion
10q23/10CEN
Mix 2 - PTEN/CEP10 single locus detection
PTEN/CEP10 single locus 10q23/10CEN Long arm deletion detection
PZRY8 Xp22.33 and Yp11.32
RARA breakapart 17q21 All variants
Monosomy or long arm
RB1 13q14
deletion detection
Monosomy or long arm
RELN/TES/7CEN 7q22.1/7q31.2/7CEN
deletion detection
ROS1 breakapart 6q22 All variants
RUNX1/RUNX1T1 dual fusion t(8;21)(q22;q22) Formerly AML1/ETO
SEC63/D6Z1 6q21/6CEN Long arm deletion detection
SS18 breakapart 18q11.2 All variants Formerly SYT
TCF3 breakapart 19p13.3 All variants Formerly EA2
TCR breakapart 14q11.2 All variants
TCRb breakapart 7q34 All variants.
TP53/D17Z1 single locus 17p13.1/17CEN Short arm deletion detection
TP53/MPO single locus 17p13.1/17q22 i(17q) detection
TRB breakapart 7q34 All variants
Uveal Melanoma single locus
3 centromere and 8 centromere Aneuploidy detection
D3Z1/D8Z2
YWHAE breakapart 17p13.3 All variants
ZNF217 20q13.2 ZNF217 amplification

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detection

Turnaround
Test Specimen Type Volume Notes/Comments
Time
FLT3 ITD, FLT3 TKDand NPM1 ex
Blood / bone marrow 0.5-5ml EDTA or Li Heparin 3 - 7 days
12 testing for patients with AML
Follicular lymphoma/DLBCL – FISH PETS 2x4µm
21 days
only sections on slides

Fragile X syndrome Blood 0.5-5ml EDTA 2-8 weeks

Friedreich Ataxia Blood 0.5-5ml EDTA 4 weeks

Fumarate Hydratase Deficiency (FH
Blood or Fibroblasts 0.5-5ml EDTA 2-6 weeks
sequencing and MLPA)
Gilbert syndrome Blood 0.5-5ml EDTA 2-6 weeks
Glanzmann thrombasthenia Blood 0.5-5ml EDTA 2-6 weeks
PETS 4x4µm
Glioma –FISH only 7 days
sections on slides
Glucose Transporter 1 (GLUT1)
deficiency syndrome (SLC2A1 Blood 0.5-5ml EDTA 2-6 weeks
sequencing and MLPA)
Glutaric Acidaemia Type 1(GA1) Blood or Fibroblasts 0.5-5ml EDTA 2-6 weeks
Glycogen Storage Disease * see website for
Next Generation Sequencing Panels: panel content
Blood 0.5-5ml EDTA 12 weeks
Liver, Muscle, Heart, Generalised Further sub-panels
Panel available
Glycogen Storage Disease Type 0
Blood 0.5-5ml EDTA 2-6 weeks
(GYS2 – liver, GYS1 - muscle)
Glycogen Storage Disease Type II
Blood 0.5-5ml EDTA 2-6 weeks
(Pompe disease) (GAA)
Glycogen Storage Disease Type III
Blood 0.5-5ml EDTA 2-6 weeks
(AGL)
Glycogen Storage Disease Type IV
Blood 0.5-5ml EDTA 2-6 weeks
(Andersen disease) (GBE1)
Glycogen Storage Disease Type V
Blood 0.5-5ml EDTA 2-6 weeks
(McArdle disease) (PYGM)
Glycogen Storage Disease Type VII
Blood 0.5-5ml EDTA 2-6 weeks
(Tarui disease)(PFKM)
Haemochromatosis Blood 0.5-5ml EDTA 4 weeks
Haemophilia A/Factor VIII deficiency-
Blood 0.5-5ml EDTA 8 Weeks
Next Generation Sequencing
Haemophilia B/Factor IX deficiency Blood 0.5-5ml EDTA 2-6 weeks
Hemiplegic Migraine Next Generation * see website for
Blood 0.5-5ml EDTA 8 weeks
Sequencing Panel* panel content
Paraffin Embedded Contact Lab prior to
Her2 –FISH only 7 days
Tissue Biopsy referral
Hereditary Ataxia Next Generation * see website for
Blood 0.5-5ml EDTA 12 weeks
Sequencing Panel* panel content
Hereditary Leiomyomatosis with renal
cell carcinoma (HLRCC/MCUL) (FH Blood 0.5-5ml EDTA 2-6 weeks
sequencing and MLPA)
Hereditary Non Polyposis Colorectal
Blood and PETS
Cancer (HNPCC) Tumour
8x10µm sections in 0.5-5ml EDTA 8 weeks
Microsatellite Instability Analysis
universal
(MSI)
Hereditary Spastic Paraparesis (HSP) * see website for
Blood 0.5-5ml EDTA 12 weeks
Next Generation Sequencing Panel* panel content
Huntington disease Blood 0.5-5ml EDTA 4 weeks
Hyperammonaemia Next Generation Blood 0.5-5ml EDTA 12 weeks * see website for

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Author: Sarah Aspey Authorised by: Richard Kirk
Page 9 of 13
 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Sequencing Panel* panel content

Sub-panels
available
Hypophosphatasia (ALPL) Blood 0.5-5ml EDTA 2-6 weeks
Isovaleric acidaemia (IVA)
Blood 0.5-5ml EDTA 2-6 weeks
- full sequencing
Isovaleric acidaemia (IVA) newborn
screening – c.941C>T common Blood 0.5-5ml EDTA 3 days
‘benign’ mutation
JAK2 (V617F mutation) Blood / Bone Marrow 0.5-5ml EDTA 14 days
JAK2 Exon 12 mutation screen
Blood / Bone Marrow 0.5-5ml EDTA 14 days
(polycythaemia rubra vera/PRV)
Karyotype See Chromosome
KRAS ( v-Ki-ras2 Kirsten rat sarcoma
PETS 8x10µm
viral oncogene homolog ) for CRC 7 days
sections in universal
and NSCLC and other
Leucine Proline-Enriched
Proteoglycan (LEPRE1) – autosomal
Blood 0.5-5ml EDTA 2-8 weeks
recessive OI.

Li Fraumeni (TP53 gene sequencing

Blood 0.5-5ml EDTA 2-8 weeks
and MLPA)

Long Chain 3-Hydroxyacyl CoA-

Blood or Guthrie
dehydrogenase (LCHAD) Deficiency 0.5 -5ml EDTA 2 weeks
spots
– c.1528G>C common mutation
Lynch syndrome / Hereditary Non 6 weeks full
Polyposis Colorectal Cancer screen, 2 * see website for
Blood 0.5-5ml EDTA
(HNPCC) Gene panel (including weeks panel content
MLPA)* predictive
PETS 2x4µm
Malt Lymphoma – FISH only 21 days
sections on slides
PETS 2x4µm
Mantle cell lymphoma - FISH only 21 days
sections on slides
Medium Chain Acyl CoA-
dehydrogenase (MCAD)Deficiency Blood or Guthrie
0.5-5ml EDTA 2-6 weeks
- c.985A>G common mutation spots
- Full sequencing
Medium Chain Acyl CoA-
dehydrogenase (MCAD) Deficiency
Blood or Guthrie 3 days -
newborn screening 0.5-5ml EDTA
spots 2 weeks
- c.985A>G common mutation
- Full sequencing
Medullary cystic and glomerulocystic 6 weeks full
kidney disease (autosomal dominant screen, 2 *see website for
Blood 1-5ml EDTA
tubulointerstitial kidney disease) Next weeks panel content
Generation Sequencing panel predictive
2-3ml EDTA
Microarray Blood 28 days
1-2mm cubed Sterile tissue
Microarray (skin) Skin biopsy 28 days
culture medium pots
Placental biopsy at
cord insertion site,
1cm cubed Sterile tissue
Microarray (fetal loss) fetal membrane, villi, 28 days
culture medium pots
cord biopsy, skin
biopsy
Chorionic villus
3-4 fronds sterile universal in
Microarray (prenatal) samples and Amniotic 14 days
CVS culture medium
Fluid samples

Date of issue: 21/12/20 Version number: 22

Author: Sarah Aspey Authorised by: Richard Kirk
Page 10 of 13
 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

MPL Exon 10 mutation screen Blood / bone marrow 0.5-5ml EDTA 14 days

Mucoepidermoid carcinoma – FISH PETS 2-4x4µm

14 days
only sections on slides

Multiple Endocrine Neoplasia Type 1

Blood 0.5-5ml EDTA 2-6 weeks
(MEN1 gene sequencing & MLPA)
Multiple Endocrine Neoplasia Type 2
(MEN2) and Hirschsprung disease Blood 0.5-5ml EDTA 2-6 weeks
(RET gene)
0.25-1ml BM in 5-10ml of
Myelodysplastic syndromes (MDS) Bone Marrow transport medium 21 days
OR 1ml BM/VB in Li Hep

Myeloma – FISH only Bone marrow 0.5-5ml EDTA 21 days

0.25-1ml BM in 5-10ml of
Myeloproliferative disease (MPD) Bone marrow transport medium 21 days
OR 1ml BM/VB in Li Hep
Myeloproliferative disorder/essential
thrombocythaemia(ET)/polycythaemi
- - -
a rubra vera (PRV)/ myelofibrosis
(MF) – see JAK2

MYH9-related disorders Blood 0.5-5ml EDTA 2-6 weeks

Neonatal alloimmune
Blood 0.5-3ml EDTA 2-6 weeks
thrombocytopenia (NAIT)
PETS 2x4µm
Neuroblastoma –FISH only 14 days
sections on slides
6 weeks full
Osteogenesis Imperfecta – *see website for all
screen, 2
autosomal dominant Next Generation Blood 0.5-5ml EDTA CTD NGS panels &
weeks
Sequencing Panel* content
predictive
6 weeks full
Osteogenesis Imperfecta-autosomal *see website for all
screen, 2
recessive Next Generation Blood 0.5-5ml EDTA CTD NGS panels &
weeks
Sequencing Panel* content
predictive
Osteogenesis Imperfecta Type V
Blood 0.5-5ml EDTA 2-6 weeks
(IFITM5)
Osteoporosis and Osteoporosis –
Blood 0.5-5ml EDTA 2-6 weeks
pseudoglioma syndrome (LRP5)
Parkinsonism Next Generation
Sequencing panel (please see
- - -
Dystonia and Parkinsonism Next
Generation Sequencing panel)

Peptidylprolyl Isomerase B
Blood 0.5-5ml EDTA 2-8 weeks
(cyclophilin B) PPIB

*see website for

Peroxisomal Biogenesis Disorders –
Blood panel content
Zellweger Syndrome Spectrum Next 0.5-5ml EDTA 12 weeks
Sub-panels
Generation Sequencing Panel
available
Pharmacogenetics NGS panel for
PETS 8x10µm *see website for
non-small cell lung cancer, colorectal 7 days
sections in universal panel content
cancer, GIST, glioma & melanoma
Platelet-type pseudo von Willebrand
Blood 0.5-5ml EDTA 2-6 weeks
Disease (GP1BA gene)
Polycystic Kidney Disease
(autosomal dominant) PKD1 & PKD2 Blood 1-5ml EDTA 2-6 weeks
Full-gene sequencing and MLPA

Date of issue: 21/12/20 Version number: 22

Author: Sarah Aspey Authorised by: Richard Kirk
Page 11 of 13
 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Polycystic kidney disease (autosomal

Blood 1-5ml EDTA 2-6 weeks
recessive) PKHD1 gene
6 weeks full
Polycystic kidney disease modifier screen, 2 *see website for
Blood 1-5ml EDTA
Next Generation Sequencing panel* weeks panel content
predictive
6 weeks full
Polycystic liver disease Next screen, 2 *see website for
Blood 1-5ml EDTA
Generation Sequencing panel* weeks panel content
predictive
Protein C Deficiency Blood 0.5-5ml EDTA 2-6 weeks
Protein S Deficiency Blood 0.5-5ml EDTA 2-6 weeks
Prothrombin (3’ non 20210G>A
Blood 0.5-5ml EDTA 2-6 weeks
prothrombin variants)
Pseudoxanthoma Elasticum Blood 0.5-5ml EDTA 2-6 weeks
Send to Lab
Quantitative BCR-ABL (MRD) Blood/Bone marrow 0.5-5ml EDTA 2 weeks
immediately
Rhabdomyolysis/metabolic
*see website for
myopathies Next Generation Blood 0.5-5ml EDTA 12 weeks
panel content
Sequencing Panel*
Renal cell cancer Next Generation *see website for
Blood 1-5ml EDTA
Sequencing panel* panel content
Retinoblastoma Blood 2-3ml Li Hep 28 days
Sickle Cell Disease Blood 0.5-5ml EDTA 2 weeks
Referrals via
Sickle Cell Disease (newborn
Dried Bloodspot - 2 weeks Newborn Screening
screening – transfused babies)
only
SNP Array – see Microarray
Spinal Muscular Atrophy, 5q-linked Blood 0.5-5ml EDTA 2-8 weeks
Spinal Muscular Atrophy Next * see website for
Blood 0.5-5ml EDTA 12 weeks
Generation Sequencing Panel* panel content
Spinal and Bulbar Muscular Atrophy
Blood 0.5-5ml EDTA 4 weeks
(SBMA) (Kennedy disease), X-linked
Spinocerebellar Ataxia, types 1-3, 6, 0.5-5ml EDTA
Blood 4 weeks
7, 12 and 17
Stickler syndrome sequencing panel Blood 0.5-5ml EDTA 2-6 weeks
SYNGAP1-associated intellectual 0.5-5ml EDTA
Blood 2-8 weeks
disability
PETS 2x4µm
Synovial sarcoma –FISH only 21 days
sections on slides
TPMT genotyping Blood 3-5mL EDTA 7 days
Trimethylaminuria/Fish Odour 0.5-5ml EDTA
Blood 2-6 weeks
Syndrome (FMO3)

Peripheral blood in
MRD analysis for paediatric ALL by 2.5-10ml ACD.
Dependant on ACD is acceptable
Ig/TCR gene rearrangements Bone marrow
time point at diagnosis if WCC
including UKALL2011 clinical trial OR EDTA.
is > 20x10^9/l.
Urea Cycle Disorders (OTC, CPS1,
Blood 0.5-5ml EDTA 2-6 weeks
NAGS, ASL, ASS1, ARG1)
Very-long-chain-acyl-CoA
Blood or fibroblasts 0.5-5ml EDTA 2-6 weeks
dehydrogenase (VLCAD) Deficiency
von Willebrand Disease type 1-3r Blood 0.5-5ml EDTA 2-6 weeks
Warfarin resistance (VKORC1 gene)
and combined vitamin K clotting Blood 0.5-5ml EDTA 2-6 weeks
factor deficiency type 2

Date of issue: 21/12/20 Version number: 22

Author: Sarah Aspey Authorised by: Richard Kirk
Page 12 of 13
 Sheffield Children’s NHS Foundation Trust Department: Sheffield Diagnostic Genetics Service

Title: Full A-Z List of Genetic Tests Document reference number: 413.001

Wilms tumour, aniridia, genitourinary

anomalies and mental retardation
Blood 1-5ml EDTA 2-6 weeks
(WAGR syndrome) by MLPA of WT1
gene
Wilms Tumour, Frasier syndrome,
Denys Drash syndrome, Steroid-
resistant nephrotic syndrome,
Blood 0.5-5ml EDTA 2-6 weeks
Meacham syndrome (Wilms Tumour
Suppressor) WT1 gene sequencing
and MLPA
Wilson disease (ATP7B)
- Full sequencing
Blood 0.5-5ml EDTA 2-6 weeks
- MLPA and promoter
sequencing

Date of issue: 21/12/20 Version number: 22

Author: Sarah Aspey Authorised by: Richard Kirk
Page 13 of 13