Ordering
  • Test code: 08100
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit
Billing
 

Invitae Primary Immunodeficiency Panel

Test description

The Invitae Primary Immunodeficiency Panel analyzes genes that are associated with inherited disorders of the immune system. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for primary immunodeficiencies (PIDs).

Order test

Primary panel (407 genes)

ACD ACP5 ACTB ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 ALG6 ANGPT1 ANKZF1 AP3B1 AP3D1 ARHGEF1 ARPC1B ASAH1 ATM ATP6AP1 B2M BACH2 BCL10 BCL11B BLM BLNK BLOC1S3 BLOC1S6 BTK C17orf62 C1QA C1QB C1QC C1S C2 C3 C5 C6 C7 C8A C8B C9 CARD11 CARD14 CARD8 CARD9 CARMIL2 CASP10 CASP8 CBL CCBE1 CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD46 CD55 CD59 CD79A CD79B CD81 CD8A CDC42 CDCA7 CEBPE CFB CFD CFH CFI CFP CHD7 CIB1 CIITA CLCN7 CLPB COL7A1 COPA CORO1A CR2 CSF2RA CSF2RB CSF3R CTC1 CTLA4 CTPS1 CTSC CXCR2 CXCR4 CYBA CYBB CYP27A1 DCLRE1C DDX58 DEF6 DGAT1 DIAPH1 DKC1 DNAJC21 DNASE1L3 DNASE2 DNMT3B DOCK2 DOCK8 DSG1 DTNBP1 DUOX2 EFL1 EIF2AK3 ELANE EPG5 ERBIN ERCC2 ERCC3 ERCC6L2 EXTL3 FADD FANCA FANCB FANCE FANCF FANCI FANCL FAS FASLG FAT4 FCHO1 FERMT1 FERMT3 FOXI3 FOXN1 FOXP3 FPR1 G6PC G6PC3 G6PD GATA2 GFI1 GINS1 GTF2E2 GTF2H5 GUCY2C HAX1 HELLS HMOX1 HPS1 HPS3 HPS4 HPS5 HPS6 HTRA2 HYOU1 ICOS ICOSLG IFIH1 IFNAR1 IFNAR2 IFNGR1 IFNGR2 IGLL1 IKBKB IL10 IL10RA IL10RB IL12B IL12RB1 IL12RB2 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7R IRAK4 IRF2BP2 IRF4 IRF7 IRF8 IRF9 ISG15 ITCH ITGAM ITGB2 ITK JAGN1 JAK1 JAK3 KDM6A KMT2A KMT2D LAMTOR2 LAT LCK LCT LIG1 LIG4 LIPA LPIN2 LRBA LRRC8A LYN LYST MAGT1 MALT1 MAP3K14 MCM4 MEFV MKL1 MOGS MPLKIP MS4A1 MSN MTHFD1 MVK MYD88 MYO5B MYSM1 NBAS NBN NCF2 NCF4 NCSTN NEUROG3 NFAT5 NFE2L2 NFKB1 NFKB2 NFKBIA NHEJ1 NHP2 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NOP10 NSMCE3 OAS1 ORAI1 OSTM1 OTULIN PARN PAX1 PEPD PGM3 PIK3CD PIK3R1 PLCG2 PMM2 PNP POLA1 POLD1 POLE POLE2 POLR3A POMP PRF1 PRKCD PRKDC PSENEN PSMA3 PSMB4 PSMB8 PSMG2 PSTPIP1 PTPRC RAB27A RAC2 RAG1 RAG2 RANBP2 RASGRP1 RBCK1 RELA RELB RFX5 RFXANK RFXAP RHOH RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNF113A RNF168 RNF31 RNU4ATAC RORC RPSA RTEL1 SAMD9 SAMD9L SAMHD1 SAR1B SCO2 SEC61A1 SEMA3E SERPING1 SH2D1A SH3BP2 SH3KBP1 SI SIAE SKIV2L SLC26A3 SLC29A3 SLC35C1 SLC37A4 SLC39A7 SLC46A1 SLC5A1 SLC7A7 SLC9A3 SLX4 SMARCAL1 SMARCD2 SNX10 SP110 SPINK5 SPINT2 SPPL2A SRP54 SRP72 STAT1 STAT2 STAT3 STAT4 STAT5B STIM1 STK4 STN1 STX11 STX3 STXBP2 TAOK2 TAP1 TAP2 TAPBP TAZ TBX1 TCF3 TCIRG1 TCN2 TERC TERT TFRC TGFB1 TGFBR1 TGFBR2 THBD TICAM1 TIMM50 TINF2 TLR3 TMC6 TMC8 TMEM173 TNFAIP3 TNFRSF11A TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF6B TNFRSF9 TNFSF11 TNFSF12 TONSL TOP2B TP63 TPP2 TRAF3 TRAF3IP2 TREX1 TRNT1 TTC37 TTC7A TYK2 UNC13D UNC45A UNC93B1 UNG USB1 VAV1 VPS13B VPS45 WAS WDR1 WIPF1 WRAP53 XIAP ZAP70 ZBTB24 ZCCHC8 ZNF341

Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Genes (42 genes)

The Invitae Add-On Primary Ciliary Dyskinesia and Cystic Fibrosis Panel analyzes genes which are associated with primary ciliary dyskinesia and cystic fibrosis. These disorders result in respiratory disease, which can include respiratory tract infections, neonatal respiratory distress, and/or other lung-related complications. Severe or recurrent respiratory infections at an early age may mimic the symptoms of a primary immunodeficiency disorder. Additional manifestations of these disorders may include situs inversus or heterotaxy, abnormal sperm motility, or congenital absence of the vas deferens (resulting in male infertility).

AK7 ARMC4 C11orf70 CCDC103 CCDC114 CCDC151 CCDC39 CCDC40 CCDC65 CCNO CEP164 CFAP298 CFTR DNAAF1 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAH1 DNAH11 DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB13 DNAL1 DRC1 GAS8 LRRC56 LRRC6 MCIDAS NOTCH2 OFD1 PIH1D3 RPGR RSPH1 RSPH3 RSPH4A RSPH9 SPAG1 ZMYND10

Add-On Cancer Predisposition Genes (3 genes)

This optional Add-On panel includes three genes associated with primary immunodeficiencies, which also cause adult-onset cancer predisposition syndromes. This panel may be appropriate to add to the Primary Immunodeficiency Panel for patients with a strong suspicion of constitutional mismatch repair deficiency syndrome or PTEN hamartoma tumor syndrome and who have been informed of the chance of identifying an adult-onset cancer predisposition syndrome by testing these genes.

MSH6 PMS2 PTEN

  • severe combined immunodeficiency
  • combined immunodeficiency
  • major histocompatibility complex class I and II deficiencies
  • combined immunodeficiency with syndromic features
  • dyskeratosis congenita
  • agammaglobulinemia and hypogammaglobulinemia
  • hyper IgM syndrome
  • hyper IgE syndrome, including Netherton syndrome
  • monogenic common variable immune deficiency
  • chronic mucocutaneous candidiasis
  • herpes simplex encephalitis
  • epidermodysplasia verruciformis
  • WHIM syndrome
  • Mendelian susceptibility to mycobacterial infections
  • autoimmune lymphoproliferative syndrome
  • familial hemophagocytic lymphohistiocytosis and related disorders
  • Hermansky-Pudlak syndrome
  • congenital neutropenia
  • chronic granulomatous disease
  • leukocyte adhesion deficiency
  • pulmonary alveolar proteinosis
  • immunodeficiency- centromeric instability- facial anomalies syndrome
  • complement deficiencies
  • monogenic congential diarrhea
  • monogenic autoinflammatory syndromes
  • monogenic autoimmunity
  • periodic fever syndromes
  • familial cold autoinflammatory syndromes
  • familial Mediterranean fever
  • monogenic inflammatory bowel disease
  • activated PI3K-delta syndrome

To view the complete clinical description of this panel, click here.

Primary Immunodeficiencies can occur in several inheritance patterns, including autosomal dominant, autosomal recessive, and X-linked.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ACD NM_001082486.1
ACP5 NM_001111035.2
ACTB NM_001101.3
ADA NM_000022.2
ADA2 NM_001282225.1
ADAM17 NM_003183.5
ADAR NM_001111.4
AICDA NM_020661.2
AIRE NM_000383.3
AK2 NM_001625.3
AK7 NM_152327.3
ALG6 NM_013339.3
ANGPT1 NM_001146.4
ANKZF1 NM_018089.2
AP3B1 NM_003664.4
AP3D1 NM_001261826.1
ARHGEF1 NM_199002.1
ARMC4* NM_018076.2
ARPC1B NM_005720.3
ASAH1 NM_177924.3
ATM* NM_000051.3
ATP6AP1 NM_001183.5
B2M NM_004048.2
BACH2 NM_021813.3
BCL10 NM_003921.4
BCL11B NM_138576.3
BLM NM_000057.3
BLNK NM_013314.3
BLOC1S3 NM_212550.4
BLOC1S6 NM_012388.3
BTK NM_000061.2
C11orf70 NM_032930.2
C17orf62 NM_001033046.3
C1QA NM_015991.2
C1QB NM_000491.3
C1QC NM_172369.3
C1S NM_201442.2
C2 NM_000063.5
C3 NM_000064.3
C5 NM_001735.2
C6 NM_000065.3
C7 NM_000587.2
C8A NM_000562.2
C8B NM_000066.3
C9 NM_001737.4
CARD11 NM_032415.5
CARD14 NM_024110.4
CARD8 NM_014959.3
CARD9 NM_052813.4
CARMIL2 NM_001013838.1
CASP10 NM_032977.3
CASP8 NM_001228.4
CBL NM_005188.3
CCBE1 NM_133459.3
CCDC103 NM_213607.2
CCDC114 NM_144577.3
CCDC151 NM_145045.4
CCDC39 NM_181426.1
CCDC40 NM_017950.3
CCDC65 NM_033124.4
CCNO NM_021147.4
CD19 NM_001770.5
CD247 NM_198053.2
CD27 NM_001242.4
CD3D NM_000732.4
CD3E NM_000733.3
CD3G NM_000073.2
CD40 NM_001250.5
CD40LG NM_000074.2
CD46 NM_002389.4
CD55 NM_000574.4
CD59 NM_203330.2
CD79A NM_001783.3
CD79B NM_000626.3
CD81 NM_004356.3
CD8A NM_001768.6
CDC42 NM_001791.3
CDCA7 NM_031942.4
CEBPE NM_001805.3
CEP164 NM_014956.4
CFAP298 NM_021254.2
CFB NM_001710.5
CFD NM_001928.3
CFH* NM_000186.3
CFI NM_000204.4
CFP NM_002621.2
CFTR* NM_000492.3
CHD7 NM_017780.3
CIB1 NM_001277764.1
CIITA NM_000246.3
CLCN7 NM_001287.5
CLPB NM_030813.5
COL7A1 NM_000094.3
COPA NM_004371.3
CORO1A* NM_007074.3
CR2 NM_001006658.2
CSF2RA* NM_006140.4
CSF2RB NM_000395.2
CSF3R NM_000760.3
CTC1 NM_025099.5
CTLA4 NM_005214.4
CTPS1 NM_001905.3
CTSC NM_001814.5
CXCR2 NM_001557.3
CXCR4 NM_003467.2
CYBA NM_000101.3
CYBB NM_000397.3
CYP27A1 NM_000784.3
DCLRE1C NM_001033855.2
DDX58 NM_014314.3
DEF6 NM_022047.3
DGAT1 NM_012079.5
DIAPH1 NM_005219.4
DKC1 NM_001363.4
DNAAF1 NM_178452.4
DNAAF2 NM_018139.2
DNAAF3 NM_001256714.1
DNAAF4 NM_130810.3
DNAAF5 NM_017802.3
DNAH1 NM_015512.4
DNAH11 NM_001277115.1
DNAH5 NM_001369.2
DNAH8 NM_001206927.1
DNAH9 NM_001372.3
DNAI1 NM_012144.3; NM_001281428.1
DNAI2 NM_023036.4
DNAJB13 NM_153614.3
DNAJC21 NM_001012339.2
DNAL1 NM_031427.3
DNASE1L3 NM_004944.3
DNASE2 NM_001375.2
DNMT3B NM_006892.3
DOCK2 NM_004946.2
DOCK8 NM_203447.3
DRC1 NM_145038.3
DSG1 NM_001942.3
DTNBP1 NM_032122.4
DUOX2* NM_014080.4
EFL1* NM_024580.5
EIF2AK3 NM_004836.6
ELANE NM_001972.2
EPG5 NM_020964.2
ERBIN NM_001253697.1
ERCC2 NM_000400.3
ERCC3 NM_000122.1
ERCC6L2 NM_020207.4
EXTL3 NM_001440.3
FADD NM_003824.3
FANCA NM_000135.2
FANCB NM_001018113.1
FANCE NM_021922.2
FANCF NM_022725.3
FANCI NM_001113378.1
FANCL* NM_018062.3
FAS NM_000043.5
FASLG NM_000639.2
FAT4 NM_024582.4
FCHO1 NM_001161357.1
FERMT1 NM_017671.4
FERMT3 NM_031471.5
FOXI3 NM_001135649.2
FOXN1 NM_003593.2
FOXP3 NM_014009.3
FPR1 NM_002029.3
G6PC NM_000151.3
G6PC3 NM_138387.3
G6PD NM_001042351.2
GAS8 NM_001481.2
GATA2 NM_032638.4
GFI1 NM_005263.3
GINS1 NM_021067.4
GTF2E2 NM_002095.4
GTF2H5 NM_207118.2
GUCY2C NM_004963.3
HAX1 NM_006118.3
HELLS NM_018063.4
HMOX1 NM_002133.2
HPS1 NM_000195.4
HPS3 NM_032383.4
HPS4 NM_022081.5
HPS5 NM_181507.1
HPS6 NM_024747.5
HTRA2 NM_013247.4
HYOU1 NM_006389.4
ICOS NM_012092.3
ICOSLG NM_015259.5
IFIH1 NM_022168.3
IFNAR1 NM_000629.2
IFNAR2 NM_207585.2
IFNGR1 NM_000416.2
IFNGR2 NM_005534.3
IGLL1 NM_020070.3
IKBKB NM_001556.2
IL10 NM_000572.2
IL10RA NM_001558.3
IL10RB NM_000628.4
IL12B NM_002187.2
IL12RB1 NM_005535.2
IL12RB2 NM_001559.2
IL17F NM_052872.3
IL17RA NM_014339.6
IL17RC NM_153461.3
IL1RN NM_173841.2
IL21 NM_021803.3
IL21R NM_021798.3
IL23R NM_144701.2
IL2RA NM_000417.2
IL2RB NM_000878.3
IL2RG NM_000206.2
IL36RN NM_012275.2
IL6R NM_000565.3
IL6ST NM_002184.3
IL7R NM_002185.3
IRAK4 NM_016123.3
IRF2BP2 NM_182972.2
IRF4 NM_002460.3
IRF7 NM_004031.2
IRF8 NM_002163.2
IRF9 NM_006084.4
ISG15 NM_005101.3
ITCH NM_031483.6
ITGAM NM_000632.3
ITGB2 NM_000211.4
ITK NM_005546.3
JAGN1 NM_032492.3
JAK1 NM_002227.3
JAK3 NM_000215.3
KDM6A NM_021140.3
KMT2A NM_001197104.1
KMT2D NM_003482.3
LAMTOR2 NM_014017.3
LAT NM_001014987.1
LCK NM_001042771.2
LCT NM_002299.3
LIG1 NM_000234.2
LIG4 NM_002312.3
LIPA NM_000235.3
LPIN2 NM_014646.2
LRBA NM_006726.4
LRRC56 NM_198075.3
LRRC6 NM_012472.4
LRRC8A NM_019594.3
LYN NM_002350.3
LYST NM_000081.3
MAGT1 NM_032121.5
MALT1 NM_006785.3
MAP3K14 NM_003954.4
MCIDAS NM_001190787.1
MCM4 NM_005914.3
MEFV NM_000243.2
MKL1 NM_020831.4
MOGS NM_006302.2
MPLKIP NM_138701.3
MS4A1 NM_152866.2
MSH6* NM_000179.2
MSN NM_002444.2
MTHFD1 NM_005956.3
MVK NM_000431.3
MYD88 NM_002468.4
MYO5B NM_001080467.2
MYSM1 NM_001085487.2
NBAS NM_015909.3
NBN NM_002485.4
NCF2 NM_000433.3
NCF4 NM_013416.3
NCSTN NM_015331.2
NEUROG3 NM_020999.3
NFAT5 NM_138714.3
NFE2L2 NM_006164.4
NFKB1 NM_003998.3
NFKB2 NM_001077494.3
NFKBIA NM_020529.2
NHEJ1 NM_024782.2
NHP2 NM_017838.3
NLRC4 NM_021209.4
NLRP1 NM_033004.3
NLRP12 NM_144687.3
NLRP3 NM_004895.4
NOD2 NM_022162.2
NOP10 NM_018648.3
NOTCH2* NM_024408.3
NSMCE3 NM_138704.3
OAS1 NM_016816.3
OFD1 NM_003611.2
ORAI1 NM_032790.3
OSTM1 NM_014028.3
OTULIN NM_138348.4
PARN NM_002582.3
PAX1 NM_006192.4
PEPD NM_000285.3
PGM3 NM_001199917.1
PIH1D3 NM_001169154.1
PIK3CD NM_005026.3
PIK3R1 NM_181523.2
PLCG2 NM_002661.4
PMM2 NM_000303.2
PMS2* NM_000535.5
PNP NM_000270.3
POLA1 NM_016937.3
POLD1* NM_002691.3
POLE NM_006231.3
POLE2 NM_002692.3
POLR3A NM_007055.3
POMP NM_015932.5
PRF1 NM_001083116.1
PRKCD NM_006254.3
PRKDC NM_006904.6
PSENEN NM_172341.2
PSMA3 NM_002788.3
PSMB4 NM_002796.2
PSMB8 NM_148919.3
PSMG2 NM_020232.4
PSTPIP1 NM_003978.3
PTEN* NM_000314.4
PTPRC* NM_002838.4
RAB27A NM_004580.4
RAC2 NM_002872.4
RAG1 NM_000448.2
RAG2 NM_000536.3
RANBP2* NM_006267.4
RASGRP1 NM_005739.3
RBCK1 NM_031229.3
RELA NM_021975.3
RELB NM_006509.3
RFX5 NM_000449.3
RFXANK NM_003721.3
RFXAP NM_000538.3
RHOH NM_004310.4
RIPK1 NM_003804.4
RMRP NR_003051.3
RNASEH2A NM_006397.2
RNASEH2B NM_024570.3
RNASEH2C NM_032193.3
RNF113A NM_006978.2
RNF168 NM_152617.3
RNF31 NM_017999.4
RNU4ATAC NR_023343.1
RORC NM_005060.3
RPGR* NM_000328.2
RPSA NM_002295.5
RSPH1 NM_080860.3
RSPH3 NM_031924.4
RSPH4A NM_001010892.2
RSPH9 NM_152732.4
RTEL1 NM_001283009.1
SAMD9 NM_017654.3
SAMD9L NM_152703.4
SAMHD1 NM_015474.3
SAR1B* NM_001033503.2
SCO2 NM_005138.2
SEC61A1 NM_013336.3
SEMA3E NM_012431.2
SERPING1 NM_000062.2
SH2D1A NM_002351.4
SH3BP2 NM_003023.4
SH3KBP1 NM_031892.2
SI* NM_001041.3
SIAE NM_170601.4
SKIV2L NM_006929.4
SLC26A3 NM_000111.2
SLC29A3 NM_018344.5
SLC35C1 NM_018389.4
SLC37A4 NM_001164277.1
SLC39A7 NM_001077516.1
SLC46A1 NM_080669.5
SLC5A1 NM_000343.3
SLC7A7 NM_001126106.2
SLC9A3* NM_004174.3
SLX4 NM_032444.2
SMARCAL1 NM_014140.3
SMARCD2 NM_001098426.1
SNX10 NM_001199835.1
SP110 NM_004509.3
SPAG1 NM_172218.2
SPINK5 NM_006846.3
SPINT2 NM_021102.3
SPPL2A NM_032802.3
SRP54 NM_003136.3
SRP72 NM_006947.3
STAT1 NM_007315.3
STAT2 NM_005419.3
STAT3 NM_139276.2
STAT4 NM_003151.3
STAT5B* NM_012448.3
STIM1 NM_003156.3
STK4 NM_006282.3
STN1 NM_024928.4
STX11 NM_003764.3
STX3 NM_004177.4
STXBP2 NM_006949.3
TAOK2 NM_016151.3
TAP1 NM_000593.5
TAP2 NM_000544.3
TAPBP NM_003190.4
TAZ NM_000116.4
TBX1 NM_080647.1
TCF3 NM_003200.4; NM_001136139.3
TCIRG1 NM_006019.3
TCN2 NM_000355.3
TERC NR_001566.1
TERT NM_198253.2
TFRC NM_003234.3
TGFB1 NM_000660.5
TGFBR1 NM_004612.2
TGFBR2 NM_003242.5
THBD NM_000361.2
TICAM1 NM_182919.3
TIMM50 NM_001001563.3
TINF2 NM_001099274.1
TLR3 NM_003265.2
TMC6 NM_007267.7
TMC8 NM_152468.4
TMEM173 NM_198282.3
TNFAIP3 NM_006290.3
TNFRSF11A NM_003839.3
TNFRSF13B NM_012452.2
TNFRSF13C NM_052945.3
TNFRSF1A NM_001065.3
TNFRSF4 NM_003327.3
TNFRSF6B NM_003823.3
TNFRSF9 NM_001561.5
TNFSF11 NM_003701.3
TNFSF12 NM_003809.2
TONSL NM_013432.4
TOP2B* NM_001068.3
TP63 NM_003722.4
TPP2 NM_003291.2
TRAF3 NM_003300.3
TRAF3IP2 NM_147686.3
TREX1 NM_033629.4
TRNT1 NM_182916.2
TTC37 NM_014639.3
TTC7A NM_020458.3
TYK2 NM_003331.4
UNC13D NM_199242.2
UNC45A NM_018671.4
UNC93B1* NM_030930.3
UNG NM_080911.2
USB1 NM_024598.3
VAV1 NM_005428.3
VPS13B NM_017890.4
VPS45 NM_007259.4
WAS NM_000377.2
WDR1 NM_017491.3
WIPF1 NM_001077269.1
WRAP53 NM_018081.2
XIAP NM_001167.3
ZAP70 NM_001079.3
ZBTB24 NM_014797.2
ZCCHC8 NM_017612.4
ZMYND10 NM_015896.2
ZNF341 NM_032819.4

ARMC4: Deletion/duplication and sequencing analysis is not offered for exon 9.
ATM: Sequencing analysis for exons 6, 24, 43 includes only cds +/- 10 bp.
CFH: Deletion/duplication analysis is not offered for exons 20, 22 and sequencing analysis is not offered for exons 15, 20, 22.
CFTR: Analysis includes the intronic variants: NM_000492.3:c.3718-2477C>T (also known as 3849+10kbC>T), c.1210-34TG[13]T[5] (also known as T5TG13), c.1210-34TG[12]T[5] (also known as T5TG12), c.1210-34TG[11]T[5] (also known as T5TG11), and c.1679+1634A>G. Sequencing analysis for exons 7 includes only cds +/- 10 bp.
CORO1A: Deletion/duplication and sequencing analysis is not offered for exon 11.
CSF2RA: Deletion/duplication analysis is not offered for this gene.
DUOX2: Deletion/duplication and sequencing analysis is not offered for exons 6-7.
EFL1: Deletion/duplication and sequencing analysis is not offered for exons 7, 15.
FANCL: Sequencing analysis for exons 4, 10 includes only cds +/- 10 bp.
MSH6: Sequencing analysis for exons 7, 10 includes only cds +/- 10 bp.
NOTCH2: Deletion/duplication and sequencing analysis is not offered for exons 1-4.
PMS2: Sequencing analysis for exons 7 includes only cds +/- 10 bp.
POLD1: Sequencing analysis for exons 22 includes only cds +/- 10 bp.
PTEN: Deletion/duplication analysis covers the promoter region. Sequencing analysis for exons 8 includes only cds +/- 10 bp.
PTPRC: Sequencing analysis is not offered for exons 3, 15.
RANBP2: Deletion/duplication and sequencing analysis is not offered for exons 1-11, 15-29.
RPGR: Only the transcript associated with X-linked PCD is analyzed; therefore, this test is not appropriate for XLRP.
SAR1B: Deletion/duplication analysis is not offered for exon 5.
SI: Deletion/duplication analysis is not offered for exon 7.
SLC9A3: Deletion/duplication analysis is not offered for exon 8.
STAT5B: Deletion/duplication and sequencing analysis is not offered for exons 6-8.
TOP2B: Deletion/duplication analysis is not offered for exon 5.
UNC93B1: Deletion/duplication analysis is not offered for exon 11.