Analyser
Hvor analysekoden i ”Specifikation” er markeret med blå tekst – Linkes ved klik på (blå tekst) til ”Laboratorievejledning.dk”.
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Analyse |
Version | Specifikation | Dato for revision |
|
Alport Syndrom |
1 |
COL4A3, COL4A4, COL4A5 |
10.05.2022 |
|
ALS Genpanel |
1 | ALS2, ANG, C9orf72, CHMP2B, DCTN1, FIG4, FUS, HNRNPA1, OPTN, PFN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, TARDBP, TBK1, UBQLN2, VAPB, VCP |
10.05.2022 |
|
Ataxi & Hørenedsættelse |
1 |
ABHD12, ATP1A3, DNMT1, PEX7, PHYH, SLC9A1, SLC52A2, SLC52A3, TWNK, WFS1 |
10.05.2022 |
|
Auriculo-kondylært Syndrom |
1 |
EDN1, GNAI3, PLCB4 |
10.05.2022 |
|
Baraitser-Winther Syndrom |
1 |
ACTB, ACTG1 |
10.05.2022 |
|
BOR (Brancio-Oto-Renalt) Syndrom |
1 |
EYA1, SIX1, SIX5 |
10.05.2022 |
|
Brown-Vialetto-van Laere Syndrom |
1 |
SLC52A2, SLC52A3 |
10.05.2022 |
| CAKUT (Congenital Anomalies of the Kidney and Urinary Tract) | 1 | BMP7, CDC5L, CHD1L, EYA1, FRAS1, FREM1, FREM2, GATA3, GREM1, GRIP1, HNF1B, ITGA8, PAX2, RET, ROBO2, SALL1, SIX2, SIX5, TBX18 | 10.05.2022 |
|
CFTR, fuld sekventering |
1 | NGS-sekventering af hele genet | 10.05.2022 |
|
CFTR, hyppigste patogene varianter |
1 | Cystisk Fibrose, 50 hyppigste mutationer i CFTR genet samt intron 8-5T varianter. | 10.05.2022 |
|
Charcot-Marie-Tooth (CMT) og Heriditær Neuropati (HNPP) |
1 |
PMP22 (MLPA) |
10.05.2022 |
| CHARGE Syndrom | 1 | CHD7, SEMA3E, TBX22 | 10.05.2022 |
|
Coffin-Siris Syndrom |
1 |
ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, SOX11 |
10.05.2022 |
| Cornelia de Lange Syndrom | 1 | HDAC8, NIPBL, RAD21, SMC1A, SMC3 | 10.05.2022 |
|
Deafness-Male Infertility Syndrom |
1 |
CDC14A, CNV-analyse for deletion af STRC-CATSPER2 |
10.05.2022 |
| DNA-F2-gen | 1 | KF2-gen | 10.05.2022 |
| DNA-F5-gen (FVLeiden) |
1 | KF5-gen | 10.05.2022 |
|
Familiær Hyperkolesterolæmi |
1 | 10.05.2022 |
|
| fTAAD (Marfan/fTAAD genpanel) | 1 | ACTA2, COL3A1, FBN1, MYH11, MYLK, NOTCH1, SKI, SMAD3, TGFB2, TGFBR1, TGFBR2 | 10.05.2022 |
| Gen (4.0 ml LiHe) | 1 | 4.0LiHe-KG | 10.05.2022 |
| Gen (6.0 ml EDTA) | 1 | 6.0EDTA-KG | 10.05.2022 |
| Gen opbevaring | 1 | MO-KBA-KG (6.0 ml EDTA) | 10.05.2022 |
| Gen opbevaring + fors. | 1 | MoF-KBA-KG (6.0 ml EDTA) | 10.05.2022 |
| Gentest for kendt familie | 1 | DNA-(spec.)-arvelig, præsymptomatisk test | 10.05.2022 |
| Helexomsekventering (WES) | 1 | Exomanalyse |
10.05.2022 |
| Helgenomsekventering (WGS) | 1 | *Panel under udarbejdelse (Arvelige hjertesygdomme, arvelig hæmatologisk sygdom, endokrinologiske patienter, kræft hos børn og unge, primær immundefekt, sjældne sygdomme hos børn og unge under 18 år) | 10.05.2022 |
| Hereditær Endometriecancer | 1 | MLH1, MSH6, PMS2, POLD1, POLE, PTEN og MSH2 inkl. EPCAM deletion | 10.05.2022 |
| Hereditær Kolorektalcancer | 1 | MLH1, MSH2, MSH6, PMS2, EPCAM deletion, APC, MUTYH, PTEN, STK11, BMPR1A, SMAD4, AXIN2, GREM1, MSH3, NTHL1, POLE, RNF43, POLD1 | 10.05.2022 |
| Hereditær Malignt Melanom |
1 | BAP1, BRCA2, CDK4 og CDKN2A |
10.05.2022 |
| Hereditær Mammacancer | 1 | BRCA1, BRCA2, PALB2, PTEN, STK11, TP53 | 10.05.2022 |
| Hereditær Mamma- og Ovariecancer | 1 | BRCA1, BRCA2, PALB2, PTEN, STK11, TP53, BRIP1, MLH1, MSH2 inkl. EPCAM deletion, MSH6, RAD51C, RAD51D | 10.05.2022 |
| Hereditær Ovariecancer |
1 | BRCA1, BRCA2, BRIP1, MLH1, MSH2 inkl. EPCAM deletion, MSH6, RAD51C, RAD51D |
10.05.2022 |
| Hereditær Pancreascancer |
1 | BRCA2, CDK4, CDKN2A, MLH1, MSH6, PALB2, STK11 og MSH2 inkl. EPCAM deletion |
10.05.2022 |
|
Hereditær Pankreatitis |
1 |
CFTR, PRSS1, SPINK1 |
10.05.2022 |
|
Hjerterytmeforstyrrelser & Hørenedsættelse |
1 |
CACNA1D, KCNE1, KCNQ1 |
10.05.2022 |
| Jervel & Lange-Nielsen Syndrom |
1 | KCNE1, KCNQ1 |
10.05.2022 |
| Koagulation (SERPINC1) | 1 | AT3 | 10.05.2022 |
| LADD Syndrom (Lacrimo-Auriculo-Dento-Digitalt) |
1 | FGF10, FGFR2, FGFR3 |
10.05.2022 |
| Laktoseintolerans | 1 | Lakt-int | 10.05.2022 |
| Lynch Syndrom | 1 | MLH1, MSH2 + EPCAM deletion, MSH6, PMS2 | 10.05.2022 |
| Mental Retarderingspanel | 1 | Intellectual Disability Panel (Klik her for at se den fulde liste) | 10.05.2022 |
| Non-Invasiv Prænatal Test (Trisomirelateret DNA gruppe) | 1 | NIPT-FFDNA | 10.05.2022 |
|
Nonsyndromisk Hørepanel |
1 |
BCS1L, COL11A1, USH2A... (Klik her for at se den fulde liste) |
10.05.2022 |
| Nonsyndromisk hørepanel, hyppigste | 1 | GJB2, GJB6, SLC26A4
|
10.05.2022 |
|
Noonan Syndrom |
1 |
BRAF, NRAS, KRAS, PTPN11, RAF1, RIT1, SOS1, HRAS, MAP2K1 og MAP2K2 |
10.05.2022 |
| Noonan Syndrom (Prænatal) | 1 | NRAS, KRAS, BRAF, PTPN11, RAF1, RIT1, SOS1, HRAS, MAP2K1, MAP2K2 | 10.05.2022 |
| Nyreagenesi & Hørenedsættelse | 1 | EYA1, FGF10, FGFR2, FGFR3, GATA3, SALL1, SALL4, SF3B4, SIX1, SIX5, TBC1D24, TFAP2A, TP63 | 10.05.2022 |
| Nyresvigt & Hørenedsættelse | 1 | ALMS1, BSND, CD151, CLCNKA, CLCNKB, COL4A3, COL4A4, COL4A5, GATA3, NLRP3, SALL1 | 10.05.2022 |
| Osteogenesis Imperfecta | 1 | COL1A1, COL1A2 | 10.05.2022 |
| Pendred Syndrom |
1 | FOXI1, KCNJ10, SLC26A4 |
10.05.2022 |
| Perrault Syndrom | 1 | CLPP, ERAL1, HARS2, HSD17B4, LARS2, TWNK | 10.05.2022 |
| Refsum Syndrom |
1 | PEX7, PHEH |
10.05.2022 |
| Leri-Weill Dyschondrosteosis |
1 | SHOX (MLPA) | 10.05.2022 |
| Spinal Muscular Athropy |
1 | SMA (MLPA) |
10.05.2022 |
|
Stickler Syndrom |
1 |
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, LOXL3 |
10.05.2022 |
| Syndromisk hørenedsættelse |
1 | ABHD12, ACTB, ACTG1... (Klik her for at se den fulde liste) |
10.05.2022 |
|
Townes-Brocks Syndrom |
1 |
FAM58A, SALL1, SALL4 |
10.05.2022 |
|
Treacher Collins Syndrom |
1 |
POLR1C, POLR1D, TCOF1 |
10.05.2022 |
| Usher Syndrom |
1 | ADGRV1 (tidl.GPR98), CDH23, CIB2, CLRN1, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A, WHRN |
10.05.2022 |
|
Wolfram & Wolfram-like Syndrom |
1 |
CISD2, WFS1 |
10.05.2022 |
|
Waardenburg Syndrom |
1 |
EDN3, EDNRB, KITLG, MITF, PAX3, SNAI2, SOX10, TYR |
10.05.2022 |
|
Y Deletion |
1 |
Mikrodeletioner i Y-kromosomet. |
10.05.2022 |
| Øvrige onkogener | 1 | BAP1, CDH1, TP53 | 10.05.2022 |
Bestilling af genetiske analyser:
Kontakt
Inge Søkilde Pedersen
Cheflaboratoriegenetiker, professor, Ph.d.
Telefon
20 48 95 99