CODE | TYPE OF SERVICE | UOM |
Outpatient Clinics (Code 21) | ||
1 | First Consultation | /consultation |
2 | Follow-up Consultation | /consultation |
16 | Medical Report (short) | /report |
17 | Medical Report (long) | /report |
21 | Dietician First Consultation | /consultation |
18 | Dietician Follow-Up Consultation | /consultation |
23 | Psychotherapy | /consultation |
19 | Genetic Counselling | /consultation |
41 | Speech Therapy Evaluation (private only) |
/consultation |
42 | Speech Therapy Short Evaluation (private only) |
/consultation |
43 | Speech Therapy Follow-up Appnt (private only) |
/consultation |
27 | Copy of report | /copy |
31 | Copy of Medical File (private only) | /copy |
In Patient Ward (Code 21) | ||
Day Care: | ||
3 | Accommodation & Nursing Care | /day |
20 | Medical Care | /day |
44 | Inpatient Speech Therapy Evaluation (Private only) |
/consultation |
50 | Inpatient Dietician First Consultation |
/consultation |
51 | Inpatient Dietician Follow-Up Consultation |
/consultation |
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 |
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 |
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 |
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 |
37 | Flash electroretinography | /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 |
1.7 | Cystic Fibrosis NGS panel (private only) | /test |
INHERITED NEPHROPATHIES | ||
Autosomal Dominant Polycystic Kidney Disease (ADPKD): | ||
2.2 | ADPKD analysis for known mutation (sequencing) | /test |
2.3 | ADPKD family linkage analysis | /family |
2.4/5 | ADPKD prenatal diagnosis | /prenatal |
2.6 | ADPKD DNA extraction storage | /extraction |
Autosomal Dominant Medullary Cystic Kidney Disease (ADMCKD): | ||
4.2 | ADMCKD analysis for known mutation (sequencing) | /test |
4.3 | ADMCKD family linkage analysis | /family |
4.4/5 | ADMCKD prenatal diagnosis | /prenatal |
4.6 | ADMCKD DNA extraction/storage | /extraction |
FSGS focal segmental glomerulosclerosis: | ||
12.1 | FSGS, analysis for known mutation (sequencing) (private only) | /test |
12.3 | FSGS family linkage analysis | /family |
Nephronothisis: | ||
31.1 | Adolescent – NPHP3 gene full mutation analysis (sequencing) (private only) | /test |
31.2 | NPHP3 gene analysis for known mutation (sequencing) (private only) | /test |
32.1 | Infantile - NPHP2 gene full mutation analysis (sequencing) (private only) | /test |
32.2 | NPHP2 gene analysis for known mutation (sequencing) (private only) | /test |
33.1 | Juvenline – NPHP4 gene full mutation analysis (sequencing) (private only) | /test |
33.2 | NPHP4 gene analysis for known mutation (sequencing) (private only) | /test |
34.1 | Type 1 – NPHP1 gene full mutation analysis (sequencing) (private only) | /test |
34.2 | NPHP1 gene analysis for known mutation (sequencing) (private only) | /test |
5.6 | Nephronophthisis DNA extraction/storage | /extraction |
Nephrotic Syndrome, Steroid-Resistant: | ||
27.1 | NPHS1 full mutation analysis (sequencing) (private only) | /test |
27.2 | NPHS1 analysis for known mutation (sequencing) (private only) | /test |
28.1 | NPHS2 full mutation analysis (sequencing) (private only) | /test |
28.2 | NPHS2 analysis for known mutation (sequencing) (private only) | /test |
Cystinuria: | ||
6.1 | Cystinuria full mutation analysis (sequencing) | /test |
6.2 | Cystinuria analysis for known mutation (sequencing) | /test |
6.3 | Cystinuria family linkage analysis | /family |
6.4/5 | Cystinuria prenatal diagnosis | /prenatal |
6.6 | Cystinuria 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 |
|
/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 |
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 |
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) |
|
|
85 | Hereditary colon cancer NGS panel 21 genes (private only) |
|
|
86 | Comprehensive hereditary cancer NGS panel 37 genes (private only) |
|
|
87 | NGS panel for primary cilliary diskinisia 33 genes (private only) |
|
|
88 | Somatic hotspot cancer panel for selection of targeted therapies (private only) |
|
|
89 | RNA lung cancer panel (fusions, translocations) (private only) |
|
|
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 |
120.9 | 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 |