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List of Services

CODE TYPE OF SERVICE UOM
  Outpatient Clinics (Codes 16, 19, 21)  
1 First Consultation /consultation
2 Follow-up Consultation /consultation
16/17 Medical Report  /report
21 Dietician First Consultation /consultation
18 Dietician Follow-Up Consultation /consultation
23/29 Psychotherapy Consultation /consultation
19 Genetic Counselling /consultation
41/42 Speech Therapy Evaluation (private only)

/evaluation
43 Speech Therapy Follow-up Appnt (private only)

/consultation
70/71 Neuropsychologist Consultation(Private only) /consultation
72 Neuropsychological Follow-up Consultation (Private only) /evaluation
27 Copy of report /copy
31 Copy of Medical File (private only) /copy
     
  Social Services (Code 21)  
21SO1 Home visit /hour
21SO2 Outpatient consultation

/consultation
21SO3 Inpatient consultation

/consultation
     
  Physiotherapy (Code 24)  
1 Home visit /hour
2 Outpatients Treatment /half hour
3 Inpatients Treatment /half hour
4 Clinics /half hour
5 Consultation /half hour
6 Disabled living assessment /hour
9 Clinical assessment /hour
10 Group physiotherapy session (private only) /45'

 

CODE TYPE OF SERVICE UOM
  In Patient Ward (Code 20)  
  Day Care:  
3 Accommodation & Nursing Care /day
20 Medical Care /day
44 Inpatient Speech Therapy Evaluation (Private only)

/consultation
50/51 Inpatient Dietician Consultation

/consultation
73/74

Neuropsychological and psychological diagnostic investigation (private only)

/investigation
75/76 Diagnostic Psychological tests (private only) /investigation
  24 Hour Care:  
4 1st Class Accommodation & Nursing Care /night
5 2nd Class Accommodation & Nursing Care /night
6 Medical Care /night
24 Visiting Doctor /consultation
29 Long Term Monitoring EEG (private only) /night
  Specialized Procedures:  
7 Botulin Toxin Injections Generalised Dystonia /procedure
8 Botulin Toxin Injections Segmental /procedure
9 Tensilon Test /procedure
10 Lumbar Puncture /procedure
25 Sleep Study /study
26 Minor surgical procedures /procedure
     

 

CODE TYPE OF SERVICE UOM
12 Nerve conduction studies per limb /limb
13 Blink Reflex /test
14.1 Nerve conduction studies for more than two limbs /session
14.2 EMG for more than two limbs /session
15 Quantitative EMG /test
16 Single fibre EMG /test
25 Repetitive stimulation /nerve
26 Mixed NCS /nerve
27 Inching /nerve
28 Sympathetic Skin Response /test
29 H-reflex /nerve
31 EMG per limb /limb
33 Jaw Jerk Reflex /session
34 Masseter Inhibitory Reflex /session
41 Copy of report /copy

 

CODE TYPE OF SERVICE UOM
1 Visual evoked potentials /test
2 Half-Field stimulation PSVEP /test
3 Flash visual evoked responses /test
4 Pattern Electroretinogram /test
5 Brainstem auditory evoked potentials /test
39 Brainstem auditory evoked potentials (bone conduction) /test
6 Threshold Latency Series /test
7.1 Upper limb somatosensory evoked potentials /test
7.2 Lower limb somatosensory evoked potentials /test
7.3 Dermatomal SSEP's /test
8 Motor evoked potentials /test
9 Multi modal evoked potentials /session
30 Routine EEG /test
44 Routine pediatric EEG /test
11 Long Term Monitoring EEG /night
17 Intra-operative monitoring /hour
18.1 Polysomnography /test
18.2 Multiple sleep latency test (MSLT) /test
18.3 Polysomnography with MSLT /night
35 Vagus Nerve Stimulation /test
38 Myogenic Vestibular Evoked Potentials /test
45 Ocular Vestibular Evoked Myogenic Potentials (oVEMPs) (private only) /test
40 Copy of report /copy

 

CODE TYPE OF SERVICE UOM
10 Extracranial Cerebrovascular Examination (Carotid doppler) /test
11 Transcranial doppler /test
12 Carotid and transcranial doppler both tests
13 Transcranial doppler monitoring /test
40 Copy of report /copy

 

CODE TYPE OF SERVICE UOM
  MUSCLE BIOPSY:  
1 Routine: H&E, Gomori, ATPase 9.4,4.6,4.3, SDH, NADH-TR, Cytochrome C, α-glycerophosphate, Oil Red O, PAS /biopsy
2 Metabolic: Myophosphorylase, Phosphofructokinase, Adenylate deaminase /biopsy
3 Inflammatory: MHC I, C5b9, Acid Phosphatase /biopsy
4 Dystrophinopathy screen: Dys 3,1,2 Utrophin, spectrin /biopsy
5 Dystrophy screen: α,β,γ,δ sarcoglycan, dysferlin, caveolin, merosin, α-dystroglycan, β-dystroglycan, collagen VI, spectrin  /biopsy
7 Paraffin: H&E Inflammatory, B & T cell, macrophage markers /biopsy
8 Developmental: Desmin, Vimentin, Myosin, Utrophin  /biopsy
  NERVE BIOPSY:  
9 Paraffin: H&E, Congo Red /biopsy
11 Immunocytochemistry (frozen) /biopsy
12 Paraffin: H& E, B & T and macrophage markers /biopsy
  BRAIN EXAMINATION:  
13 Whole brain examination /biopsy

 

 
 
 
 
 
 
 
 
 
 

CODE TYPE OF SERVICE UOM
1 Prenatal diagnosis for  Thalassaemia - 1st CVS /prenatal
2 Prenatal diagnosis for  Thalassaemia - 2nd CVS /prenatal
3 Diagnostic samples for  Thalassaemia  /sample/site
4 Alpha and beta locus MLPA analysis /sample
10 Molecular Diagnosis for Thalassaemia /sample
13 Sequencing of globin gene /sample
14 DNA extraction from blood /extraction
15 DNA extraction from tissue /extraction
16 Pre-implantation genetic diagnosis (PGD)  /case
17 NIPD for X-linked disorders /sample
18 Non Invasive prenatal diagnosis for fetal RHD status (private only) /sample
19 Non invasive prenatal diagnosis for β-thalassaemia /sample
20 Epo test (private only) /sample
21 sTfR test (private only) /sample
22 LIP test (private only) /sample
23 NTBI test (private only) /sample
24 Oxidative stress test (private only) /sample
25 Modifiers of β-thalassaemia test (private only) /sample
26 Targeted NGS panel for the molecular diagnosis of rare anaemias (RA-NGS) (private only)  
27-30 Targeted in silico gene panel   
31/32 Whole exome sequencing (WES) (private only)  
33/34 Clinical exome sequencing (CES) (private only)  
35/36 Open up of NGS data after in silico panel (private only) /sample
38 Confirmation of SNVs with Sanger Sequencing (SNV-SANGER) (private only) /sample
39 Trio in silico panel from WES ( applied for all above disease specific panels) (private only) /family trio
40 Trio in silico panel from CES (applied for all above disease specific panels) (private only) /family trio

 

CODE TYPE OF SERVICE UOM
  FORENSIC GENETICS  
5.1* DNA Profiling of one person

/person
5.2*

Duo or Trio Kinship test

 /case
5.3*

Each additional person to be included in Duo or Trio kinship test

 /person
5.4* Kinship with one skeletal element /element
5.5* Kinship test with each additional skeletal element /element
6 Other forensic genetic services (police) /case
12 Other forensic genetic services (missing persons) /case
  CARDIOVASCULAR GENETICS  
3 Familial Hypercholesterolaemia /family
4 Apolipoprotein E Genotyping /case
9 Thrombophilia (4 mutations simultaneously) /case
11 Cardio panel (in silico panel from CES/WES) (private only) /case
15/16 Clinical Exome Sequencing (private only) /patient/trio
17/18 Whole Exome Sequencing (private only) /patient/trio
19 Sanger sequencing for confirmation/screening of NGS result (private only) /case
  SCREENING FOR MITOCHONDRIAL MUTATIONS  
13 Molecular Investigation of MItochondrial Diabetes and Deafness (MIDD) /case
     
  * plus VAT  

 

CODE TYPE OF SERVICE UOM
  CYSTIC FIBROSIS (CF)  
1.1 CF full mutation analysis (by NGS) /test
1.6 CF DNA extraction/storage /extraction
  HEREDITARY RECURRENT FEVERS  
  Familial Mediterranean Fever (FMF):  
7.1 FMF full mutation analysis  (sequencing) /test
7.2 FMF analysis for known mutation  (sequencing) /test
7.6 FMF DNA extraction/storage /extraction
  Mevalonate kinase Deficiency - MKD:  
18.1 MVK gene full mutation analysis (sequencing)  (private only) /test
18.2 MVK gene analysis for known mutation  (sequencing) (private only) /test
  Tumour Necrosis factor associated periodic syndrome –TRAPS:  
23.1 TNFRSF1A gene full mutation analysis (sequencing exons 2, 3 & 4) (private only) /test
23.2 TNFRSF1A gene analysis for known mutation  (sequencing) (private only) /test
  Cryopyrin-associated periodic syndrome) – CAPS:  
24.1 NLRP3 gene full mutation analysis (sequencing exon 3) (private only) /test
24.2 NLRP3 gene analysis for known mutation  (sequencing) (private only) /test
24.3

Hereditary recurrent fevers (HRF) (in silico panel from WES) (private only)

 /test
  SWEAT TEST  
8.7 Sweat test /test
  HAEMOCHROMATOSIS  
10.7 Haemochromatosis analysis of individual mutations /test
  RET - PROTO-ONCOGENE  
11.1 RET full mutation analysis  (sequencing) /test
11.2 RET analysis for known mutation  (sequencing) /test
11.6 RET DNA extraction/storage /extraction
  INHERITED DEAFNESS  
  Hearing Loss, Gap Junction Beta 2 & 6 genes:  
13.1 Connexin 26 (GJB2) full mutation analysis (sequencing) /test
13.2 Connexin 26 analysis for known mutation  (sequencing) /test
13.6 Connexin DNA extraction/storage /extraction
15.1 Connexin 30 (GJB6) full mutation analysis (sequencing) /test
15.2 Connexin 30 analysis for known mutation  (sequencing) /test
15.6 Hearing Loss (in silico ppanel from WES) (private only) /test
  Renal Tubular Acidosis, Distal with Progressive Nerve Deafness:  
29.1 ATP6V1B1 gene mutation analysis (sequencing) (private only) /test
29.2 ATP6V1B1 gene analysis for known mutation  (sequencing) (private only) /test
  Branchio-Oto-Renal Syndrome, Type 1, BOR 1:  
30.1 EYA1 gene full mutation analysis  (sequencing) (private only) /test
30.2 EYA1 gene analysis for known mutation  (sequencing) (private only) /test
  Pendred Syndrome:  
36.1 SLC26A4 gene full mutation analysis (sequencing) (private only) /test
36.2 SLC26A4 gene analysis for known mutation  (sequencing) (private only) /test
  MULTIPLE SCLEROSIS  
14 Oligoclonal Bands detection for MS patients /test
  CONGENITAL ADRENAL HYPERPLASIA - CAH  
  CYP21A2 gene analysis:  
16.1 CYP21A2 gene  full mutation analysis (sequencing)  /test
16.2 CYP21A2 gene analysis for known mutation  (sequencing) /test
16.6 Congenital Adrenal Hyperplasia DNA extraction/storage /extraction
16.7 Congenital Adrenal Hyperplasia Sequencing per test (exon sequencing) /test
  CYP11B1 gene  analysis:  
25.1 CYP11B1 gene  full mutation analysis (sequencing) (private only) /test
25.2 CYP11B1 gene analysis for known mutation  (sequencing) (private only) /test
  OBESITY  
17.1 MC4R full sequencing /test
17.2 Obesity analysis for known mutation /test
17.3 FTO GEN Mutation Analysis (private only) /test
17.6 Obesity DNA extraction/storage /extraction
  MATURITY ONSET DIABETES OF THE YOUNG (MODY)  
  Glucokinase, GCK gene (MODY 2):  
19.1 MODY 2 Full Mutation Analysis  (sequencing) (private only) /test
19.2 MODY 2  Analysis of Known Mutation  (sequencing) (private only) /test
  HNF1a  gene (MODY 3):  
20.1 MODY 3 Full Mutation Analysis  (sequencing) (private only) /test
20.2 MODY 3  Analysis of Known Mutation  (sequencing) (private only) /test
20.6 MODY DNA extraction/storage (private only) /extraction
20.7

Glucose and Insulin Homeostasis (MODY and OBESITY) (in silico panel from WES) (private only)

 /test
  DISORDERS OF SEXUAL DIFFERENTIATION - DSD  
45

Disorders of Sexual Development (CAH and DSDs) (in silico panel from WES) (private only)

 /test
  5-alpha reductase deficiency:  
21.1 SRD5A2 Full Mutation Analysis  (sequencing) (private only) /test
21.2 SRD5A2 Analysis of Known Mutation  (sequencing) (private only) /test
21.6 SRD5A2 DNA extraction/storage (private only) /extraction
  Androgen Receptor:  
35.1 AR gene full mutation analysis (sequencing) (private only) /test
35.2 AR gene analysis for known mutation  (sequencing) (private only) /test
  GROWTH HORMONE DEFICIENCY  
  Homeobox protein prophet 1, PROP1 gene:  
22.1 PROP1 Gene Full Mutation Analysis  (sequencing) (private only) /test
22.6 PROP1 DNA extraction/storage (private only) /extraction
  VITAMIN D RECEPTOR (VITAMIN D DEFICIENCY)   
37.1 VDR gene full mutation analysis (sequencing) (private only) /test
37.2 DR gene analysis for known mutation  (sequencing) (private only) /test
  CENTRAL PRECOCIOUS PUBERTY (CPP)  
38.1 MKRN3 gene full mutation analysis (private only)   /test
38.2 MKRN3 gene known mutation analysis (private only)   /test
38.4 Premature and Delayed Puberty (in silico panel from WES) (private only) /test
  THYROID FUNCTION  
39.1 Thyroid Function (in silico panel from WES) (private only) /test
  EXOME SEQUENCING  
41/42 Clinical Exome Sequencing-CES (private only)  
43/44 Whole Exome Sequencing-WES (private only)  
46 Sanger sequencing based confirmation of a variant identified by NGS (private only)  /test
  OTHER  
96 Other DNA extraction/storage /extraction

 

CODE TYPE OF SERVICE UOM
1 Transthyretin Val30Met mutation detection test  /patient
1.01 Transthyretin DNA sequencing test  /patient
2 Huntington CAG triplet repeat test  /patient
3 Friedreich’s Ataxia (FRDA) Frataxin GAA tiplet repeat test /patient
3.01 National Prevention Program for Friedreich Ataxia /test
4 Spinocerebellar Ataxia 1 (SCA1) CAG triplet repeat test  /patient
5 Spinocerebellar Ataxia 3 (SCA3) CAG triplet repeat test  /patient
6.02 Myelin Protein Zero (MPZ) sequencing test  /test
6.03 Connexin 32 (CX32 / GJB1) sequencing test  /test
6.04 Peripheral Myelin Protein 22 (PMP22) sequencing test  /test
6.05 CMT1A/HNPP MLPA evaluation  /test
6.06 Mitofusin 2 (MFN2) gene sequencing test    /test
6.07 Neurofilament-light (NEFL) gene sequencing test /test
6.08 Ganglioside-induced differentiation-associated protein 1 (GDAP1) gene sequencing test /test
6.09 Glycyl-tRNA synthetase (GARS) gene sequencing test [CMT2D; DSMAV] /test
6.1 Early growth response 2 (EGR2) gene sequencing test [CMT1D; CMT4E] /test
6.11 Detection of the c.892C>T mutation in exon 5 of the LMNA gene [ARCMT2] /test
7.01 SMA MLPA evaluation  /patient
8 Known LGMD2 mutation detection test  /patient
8.01 Linkage analysis (LGMD2A – LGMD2I loci) /family
9 DM1 CTG triplet repeat test  /patient
10 DNA Extraction & Banking /patient
12/13/14 Spinocerebellar Ataxia 2/6/7 (SCA2/6/7) CAG triplet repeat test  /patient
15 SCA Panel (SCA1, 2, 3, 6, 7) test  /patient
16/17/18 Spinocerebellar Ataxia 8/17/18 (SCA8/17/18) CTA/CTG repeat test  /patient
19 DRPLA CAG triplet repeat test  /patient
20 Aprataxin (APTX) sequencing test  /patient
21 Spinocerebellar Ataxia 10 (SCA10) ATTCT repeat test  /patient
22 Spinal and bulbar muscular atrophy (SBMA) or Kennedy’s disease, androgen receptor CAG triplet repeat test  /patient
23 SOD1 gene sequencing test /patient
24 Detection of the N88S / S90L mutations in exon 3 of the BSCL2 gene [HMN5] /test
25 TAR DNA binding protein TARDBP (TDP-43) gene sequencing test [ALS10] /test
26 Detection of the G2019S mutation in exon 41 of the LRRK2 gene [PARK8] /test
27 Gap junction protein, gamma 2 (GJC2) gene sequencing test [SPG44] /test
28 Spastin (SPAST) gene sequencing test [SPG4] /test
29 Atlastin GTPase 1 (ATL1) gene sequencing test [SPG3] /test
30 SPAST and ATL1 genes MLPA evaluation [SPG4 and SPG3] /test
31 Receptor expression enhancing protein 1 (REEP1) gene sequencing test [SPG31] (private only) /test
32 Fused in sarcoma (FUS) gene sequencing test [ALS6] (private only) /test
33 C9orf72 gene GGGGCC hexanucleotide repeat test [ALSFTD] (private only) /test
34 Lamin A/C (LMNA) gene sequencing test [CMD1A] (private only) /test
35 ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2) gene sequencing test [FHM2] (private only) /test
36 Low density lipoprotein receptor-related protein 5 (LRP5)(private only) /test
37
Molecular investigations of cardiomyopathies
/family
40,2

Cardiomyopathy panel (in silico panel from WES) (private only)

 /patient
41 Amyotrophic Lateral Sclerosis panel (in silico panel from WES) (private only) /patient
42 Ataxia panel (in silico panel from WES) (private only) /patient
43

Cerebral Cavernous Malformation panel (in silico panel from WES) (private only)

 /patient
44

Charcot-Marie-Tooth Neuropathy panel (in silico panel from WES) (private only)

 /patient
45

Congenital Myasthenic Syndromes panel (in silico panel from WES) (private only)

 /patient
46

Custom Neuro panel (in silico panel from WES) (private only)

 /patient
47

Dementia panel (in silico panel from WES) (private only)

 /patient
48

Distal Hereditary Motor Neuropathy panel (in silico panel from WES) (private only)

 /patient
49

Dystonia panel (in silico panel from WES) (private only)

 /patient
50

Epilepsy panel (in silico panel from WES) (private only)

 /patient
51

Hemiplegia/Stroke Panel (in silico panel from WES) (private only)

 /patient
52

Leukodystrophy and Leukoencephalopathy panel (in silico panel from WES) (private only)

 /patient
53

Migraine panel (in silico panel from WES) (private only)

 /patient
54

Muscular Dystrophy-Myopathy panel (in silico panel from WES) (private only)

 /patient
55

Neurofibromatosis panel (in silico panel from WES) (private only)

 /patient
56

Neuro-ophthalmic panel (in silico panel from WES) (private only)

 /patient
57

Parkinson Disease panel (in silico panel from WES) (private only)

 /patient
58

Retinal degeneration panel (in silico panel from WES) (private only)

 /patient
59

Spastic Paraplegia panel (in silico panel from WES) (private only)

 /patient
60

Spinal Muscular Atrophy panel (in silico panel from WES) (private only)

 /patient
61

Tuberous Sclerosis panel (in silico panel from WES) (private only)

 /patient
64/65 Whole Exome Sequencing-WES (Single/Trio) (private only) /patient
67

Open WES data after in silico panel (private only)

 /patient
69

Trio in silico panel from WES (applied for all above disease specific panels) (private only)

 /family trio
70 Sanger sequencing based confirmation of a variant identified by NGS (private only) /patient
71 Carrier diagnosis for Duchenne /test
80 Family Analysis* /family
81/82 Prenatal diagnosis* /prenatal
83 Analysis of known gene mutation for additional family members (private only) /test
  *Provided for all diseases specified above  

 

CODE TYPE OF SERVICE UOM
1 Chromosomal analysis of CVS - Prenatal Diagnosis /test
2 Chromosomal analysis of Amniotic Fluid /test
3 Chromosomal analysis of Fetal Blood /test
4 Chromosomal analysis of Peripheral Blood /test
5 Chromosomal analysis of Skin Biopsy /test
6 Examination and chromosomal analysis of Prod. of Conception (POC) /test
7 Tissue Culture Only - To facilitate other tests /specimen
8 Chromosomal analysis of Peripheral Blood for couples  /test
20 Identification/Confirmation/Characterisation of Chromosomal abnormality(ies) by FISH /test
21 Diagnosis of Disease(s) / Syndrome(s) by FISH /test
22 Multiprobe detection centromeric/telomeric /test
23 Pre-implantation Genetic Diagnosis by FISH /test
24 M-FISH /test
25 Sperm FISH for chromosome aneuploidies analysis  /test
26 Sperm DNA fragmentation analysis  /test
60 Prenatal diagnosis of Fragile X Syndrome /family
61 Postnatal diagnosis of Fragile X Syndrome/per Individual /test
62 Investigation of abnormalities/syndromes with MLPA or qRT PCR/PCR /person
63 DNA Isolation/storage /sample
64 Detection of Y chromosomal material/ per individual /sample
65 Screening of Y(AZF) chromosomal microdeletions /sample
66 Achondroplasia mutation G1138A analysis /sample
67 Central Diabetes Insipidus /sample
68 Molecular diagnosis of Prader Willi/Angelman syndrome /test
69 Rapid prenatal diagnosis of 13,18,21,X,Y aneuploides (QF-PCR) /test
70 Detection of genomic imbalances with microarray-CGH  /sample
71 Pre-implantation Genetic Testing with array CGH or NGS (1 Blastocyst) - private only /sample
71.2 Pre-implantation Genetic Testing with array CGH or NGS (2 Blastocysts) - private only /sample
71.3 Pre-implantation Genetic Testing with array CGH or NGS (3 Blastocysts) - private only /sample
71.4 Pre-implantation Genetic Testing with array CGH or NGS (4 Blastocysts) - private only /sample
71.5 Pre-implantation Genetic Testing with array CGH or NGS (5 Blastocysts) - private only /sample
71.6 Pre-implantation Genetic Testing with array CGH or NGS (6 Blastocysts) - private only /sample
71.7 Pre-implantation Genetic Testing with array CGH or NGS (7 Blastocysts) - private only /sample
71.8 Pre-implantation Genetic Testing with array CGH or NGS (8 Blastocysts) - private only /sample
71.9 Pre-implantation Genetic Testing with array CGH or NGS (9 Blastocysts) - private only /sample
71.10 Pre-implantation Genetic Testing with array CGH or NGS (10 Blastocysts) - private only /sample
71.11 Pre-implantation Genetic Testing with array CGH or NGS (11 Blastocysts) - private only /sample
71.12 Pre-implantation Genetic Testing with array CGH or NGS (12 Blastocysts) - private only /sample
80 Establish Lymphoblastoid Cell Line /sample
81 Establish Fibroblast Cell Line /sample
82 Thawing-Freezing-Expansion up to 2T-25 Flasks /sample
83 Maintain Two Vials/Sample in N2/year /sample
110 Targeted Panel up to 50 genes (private only) /test
111 Clinical Exome Sequencing (Single patient analysis) (private only) /test
112 Clinical Exome Sequencing (Trio analysis) (private only) /family trio
113 In Silico Panel from Clinical Exome Sequencing (Single Patient analysis) (private only) /test
114 In Silico Panel from Clinical Exome Sequencing (Trio analysis) (private only) /family trio
115 Whole Exome Sequencing (Single patient analysis) (private only) /test
116 Whole Exome Sequencing (Trio analysis) (private only) /family trio
117 Open up the CES data after in silico panel (private only) /test
118 Open up the WES data after in silico panel (private only) /test
119 Sanger DNA sequencing for confirmation of mutation/variant detected by NGS/patient (private only) /test

 

CODE TYPE OF SERVICE UOM
  BIOCHEMICAL ASSAYS  
1 Lactate /test
2 Pyruvate /test
4 Ischaemic Exercise Test /test
5 Ammonia /test
7 Creatine Kinase /test
8 Creatine Kinase Isoenzymes /test
9 Amino Acids (Plasma/Urine/CSF) /test
10 Acylcarnitines /test
12 Vitamin E /test
13 Urine Screen (Stick) /test
14 Urine Spot Tests /test
14.1 Reducing Substances /test
14.2 Nitroprusside test for Cystine/Homocystine /test
15 Biotinidase /test
16 Hexosaminidase A & B /test
17 Lysosomal Enzymes Single /test
18 Lysosomal Enzymes Screen /test
19 Mucopolysaccharides (GAG/creatine ratio) /test
21 Mucopolysaccharides (GAG Electrophoresis) /test
24 C26:0-LysoPC in plasma (private only) /test
31 Organic Acids /test
31.2 Plasma methylmalonic acid (private only) /test
32.1 DNA Isolation /extraction
32.3/32.4 Metabolic Disorders in silico panel from CES Single/Trio (private only) /test
/family trio
32.5 Open up CES data after in silico panel (private only) /test
32.6/32.7 Metabolic Disorders WES Single/Trio (private only)

/test
/family trio
32.8 Sanger sequencing for confirmation of NGS result (private only) /test
65 Total Homocysteine /test
66 Sugar Chromatography (TLC) /test
67 Oligosaccharides (TLC) /test
69 Vitamin B12 /test
70 Folate /test
71 Homocysteine - B12 - Folate screen /test
80 Vitamins A&E /test
81 Vitamin A /test
82 Viramin D /test
  MUSCLE BIOCHEMISTRY  
40 Carnitine Palmitoyl Transferase /test
41 Mitochondrial Enzymes /test
42 Muscle enzymes single /test
46 Dystrophin /test
47

Dysferlin WB (private only)

 /test
49 Calpain WB (private only) /test
50

Dysferlin & Caplain WB (private only)

 /test

 

CODE TYPE OF SERVICE UOM
1 Processing and examination of specimens in the TEM /test
2 Examination of specimens in the TEM /test
3/4 Use of TEM per session /session
5 Consultation test for cancer susceptibility /consultation
6/7 DNA extraction/storage from blood/tissue /extraction
8/9 mRNA extraction/storage from tissue/blood /extraction
10/12 BRCA1/BRCA2 mutation screen /test
11/13 BRCA1/BRCA2 analysis for known mutation /test
14/16 p53/APC mutation screen /test
15/17 p53/APC analysis for known mutation /test
18 Microsattelite instability (MSI) /test
19/21 MLH1/hMLH2/MLH6 mutation screen /test
20/22 MLH1/MLH2 analysis for known mutation /test
23/25 PMS1/PMS2 mutation screen /test
24/26 PMS1/PMS2 analysis for known mutation /test
27 MSH6 mutation screen /test
28 MSH6 analysis for known mutation /test
29 K-ras mutation detection /test
29.1 K-ras somatic mutation detection   /test
29.2 K-ras/N-ras somatic mutation detection (private only) /test
30/31/32 Immunohistochemistry of MLH1/MLH2/MLH6 /test
33 Immunohistochemistry of PMS2 /test
41/43/45 PTEN/STK11/CHEK 2 mutation screen /test
42/44/46 PTEN/STK11/CHEK 2 analysis for known mutation /test
47/49/51 ATM/PALB2/BRIP1 mutation screen /test
48/50/52 ATM//PALB2/BRIP1 analysis for known mutation /test
53/55 CDKN2A/BRAF mutation screen /test
54/56 CDKN2A/BRAF analysis for known mutation /test
57 Mitochondrial DNA sequencing for a single gene  /test
58 Mitochondrial DNA analysis for known mutation  /test
59 Mitochondrial DNA southern blot for detection of multiple deletion(s), duplication(s) and depletion  /test
60 Mitochondrial DNA mutation Screen /test
61 EGFR full gene testing  /test
62 EGFR exons 18-21 testing  /test
62.1 EGFR T790 mutation detection in circulating cell-free tumour DNA (private only)      /test
63 CFHR5 Nephropathy (private only) /test
64 KIT mutation screen (private only) /test
65 KIT analysis for exons 9,11,13,17 (private only) /test
66 KIT analysis of known mutation (private only) /test
67 PDGFRA mutation screen (private only) /test
68 PDGFRA analysis of exons 12,18 (private only) /test
69 PDGFRA analysis for known mutation (private only) /test
70 CDH1 mutation screen (private only) /test
71 CDH1 analysis for known mutation (private only) /test
72/74 MUTYH/VHL mutation screen (private only) /test
73/75 MUTYH/VHL analysis for known mutation (private only) /test
  Discovery proteomics LC-MS/MS: Platform 1, Synapt G2Si – nanoAcquity:  
76 1D nanoLC-MS/MS 220 min gradient (private only) /sample
77 2D (RP-RP) nanoLC-MS/MS, 6 fractions, 150min gradient/fraction (private only) /sample
78 Data analysis (Proteomics) (private only) per set of data deriving from the analysis of 10-15 samples
  Targeted analysis LC-MRM: Platform 2, Xevo TQD-Acquity UPLC:  
79 Method development (private only)  
80 Price per sample for pre-developed MRM assay (private only)  
81 BRCA1/2 somatic mutation detection by NGS (private only) /test
82 Mitochondrial nuclear gene panel by NGS >100 genes (private only) /test
83 Mitochondrial nuclear gene panel by NGS >100 genes (private only) /test
84 Hereditary breast and ovarian cancer NGS panel 23 (private only)
/test
85 Hereditary colon cancer NGS panel 21 genes (private only)
/test
86 Comprehensive hereditary cancer NGS panel 37 genes (private only)
/test
87 NGS panel for primary cilliary diskinisia 33 genes (private only)
/test
88 Somatic hotspot cancer panel for selection of targeted therapies (private only)
/test
89 RNA lung cancer panel (fusions, translocations) (private only)
/test
90/90.1 Whole Exome Sequencing-WES  (private only) /test
/family trio
91 Sanger sequencing for confirmation of NGS result (private only) /test

 

CODE

TYPE OF SERVICE

UOM

3/4

 CMV-IgG/IgM /test

17/18

Toxoplasma IgG/IgM

 /test
 

HEPATITIS-RELATED

  

41

Hepatitis: HBV - DNA 

 /test

42

Hepatitis: HCV - RNA

 /test
 

HERPESVIRUSES

  
43

Herpesvirus: CMV - DNA

 /test
44

Herpesvirus: HSV1 - DNA

 /test
45

Herpesvirus: HSV2 - DNA

 /test
46

Herpesvirus: EBV - DNA

 /test
47

Herpesvirus: VZV- DNA

 /test
73/74/75

PCR HHV6/7/8-DNA 

 /test
 

HUMAN PAPILLOMA VIRUSES

  
49.1

Human Papilloma Viruses - DNA (standard request) 

/test
 

OTHER VIRUSES

  
48

RT/PCR Polio, Coxsaxkie, Echo, Entero - Virus

 /test
63

Adenoviruses : Adeno - DNA

 /test
71

PCR Parvovirus-DNA 

 /test
78

Toxoplasma DNA

 /test
 

MENINGITIS-RELATED

  
83

Neisseria meningitidis (private only)

 /test
84

Listeria Monocytogenes (private only)

 /test
85

Streptococcus pneumoniae (private only)

 /test
86

Haemophilus influenza b (private only)

 /test
87

Panel: N. meningitidis, S. pneumoniae, H. influenzae (private only)

 /test
 

PNEUMONIA-RELATED

  
88

Chlamydia pneumoniae (private only)

 /test
89

Mycoplasma pneumoniae (private only)

 /test
 

HIV

  

91

HIV-1 RNA (private only)

 /test

92

HIV-1 Drug resistance typing (private only)

 /test
  MALARIA  
93

Plasmodium spp. (private only)

 /test
  ZOONOTIC DISEASES  
94

Coxsiella burnetti (private only)

 /test
95

Anaplasma spp. (private only)

 /test
96

Rickettsia typhi (private only)

 /test
97

Leishmania spp. (private only)

 /test
 

RESPIRATORY VIRUSES

  
77

Influenza virus A(H1N1) (Swine) - rRT-PCR 

 /test
81/82

Respiratory Viruses Panel 

 /test
110

MERS Coronavirus (private only)

 /test
111

Influenza A Typing (private only)

 /test
123 SARS-CoV-2 (2019-nCoV) (private only) /test
 

GASTROINTESTINAL VIRUSES

  
67

RT/PCR - Rotavirus

 /test
72

RT-PCR Norovirus-RNA 

 /test
112

Astrovirus (private only)

 /test
113

Panel: Rotavirus, Norovirus, Astrovirus, Adenovirus (private only)

 /test
 

VECTORBORNE VIRUSES

  
79

Phleboviruses  

 /test
80 Flaviviruses  /test
80.1

Zikavirus (private only)

 /test
114

Alphaviruses (Chikungunya virus, O’Nyong Nyong virus, etc.) (private only)

 /test
115

Ebolavirus and other haemorraghic fever viruses (private only)

 /test
116

Crimean–Congo hemorrhagic fever (private only)

 /test
 

OUTBREAK INVESTIGATION

  

117

Investigation of outbreaks caused by infectious pathogens (private only)

 /test

CODE

TYPE OF SERVICE

UOM
 

ANIMAL CAGE MAINTENANCE

  

1/2

Small / Large cage maintenance

/week
3

Metabolic cage maintenance

 /cage/use
11

Small cage maintenance - CD1 nude / Nod-Scid mice / Filter Top

/cage/week
12 Large cage maintenance - CD1 nude mice /week
  ANIMAL REQUEST  
4 Non-stock lines

/case
4.01 Rosa 26 R mice /mouse
4.02

C57BL6/6J mice

 /mouse

4.03

BALBC mice

 /mouse

4.05

CD1 mice

 /mouse

4.12

 Nod-Scid mice /mouse

4.13

 SJL mice /mouse

4.2

 CD1 nude mice /mouse

17

 Foster mother (CD1 female) /mouse
19

Pseudopregnant female (CD1 or F1)

 /mouse
 

BIOPSY AND GENOTYPING

  
4.06 Tail biopsy /mouse
4.07 Tail biopsy and genotyping (LacZ) /mouse
4.08 Tail biopsy and genotyping (DNA extraction + PCR) /mouse
4.09 Embryo biopsy

/embryo

4.1

 Embryo biopsy and genotyping (LacZ)

/embryo

4.11

 Embryo biopsy and genotyping (DNA extraction + PCR) /embryo
  SPECIAL PROCEDURES  
18

Caesarean section (hysterectomy)

/section
20

Embryo transfer

/transfer
21

Superovulation of  females and embryo collection

/mouse
22

Vasectomy of males (including the cost of mouse)

 /mouse
 

TRANSGENIC SERVICE

  

5.01/5.02

Blastocyst injection and chimera breeding package 

/package

6.01/6.02

ES electroporation package 

 /package

14.01/14.02

Pronuclear injection package (incl. BAC injection)

 /package
  PURIFICATION OF DNA  

15.01/15.02

DNA purification for BAC and 20 Kb

/purification

16.01/16.02

DNA purification for 20 Kb>constructs 

/purification
  PACKAGING AND SHIPMENT OF MICE  

13

Delivery of live mice by messenger (Nicosia)

/delivery

23

Packaging of mice for export (including preparation of relevant documents)

/cage
  OTHER SERVICES  

10

 Special service request

/service

 

winner