Turn Around Times

Ambry Genetic's Turn-around-times (TAT) are listed in calendar days below.
ABCA3-Related Surfactant Dysfunction
Technique Days
SFTPB Gene Sequence Analysis 5-10
SFTPC Gene Sequence Analysis 5-10
Surfactant Panel (ABCA3, SFTPB, SFTPC) 5-14

 

Alagille AMPLIFIED™
Technique Days
JAG1 Gene Sequence Analysis and Deletion / Duplication 10-28
JAG1 Deletion / Duplication Analysis 10-21
JAG1 Gene Sequence Analysis 7-14

 

Alpha-1-Antitrypsin Deficiency
Technique Days
SERPINA1 Gene Sequence Analysis 10-21

 

Ambry CMA:180K Oligo Array V2 (Chromosomal Microarray)
Technique Days
CMA: 180K Oligo Array 10-14

 

AmbrySCREEN Version 2™
Technique Days
AmbrySCREEN 10-21

 

Aminoglycoside-Related Hearing Loss
Technique Days
MT-RNR1 Gene Sequence Analysis 10-21

 

Amyotrophic Lateral Sclerosis (ALS)
Technique Days
ALS SOD1, Reflex to ANG, FIG4, FUS, TARDBP 7-28
ALS SOD1, Concurrent to ANG, FIG4, FUS, TARDBP 14-21
ALS SOD1 Gene Sequence Analysis 7-14
ALS Step 2: 4 Genes 14-21

 

Angelman Syndrome
Technique Days
UBE3A Gene Sequence Analysis 14-21
2420 Angelman Syndrome, X-Linked SLC9A6     14-21
Angelman Syndrome SNRPN and UBE3A     14-28
SNRPN Methylation      7-14

 

Angelman-like Syndrome, X-Linked
Gene sequence or specific mutation analysis  

 

APC Amplified
Technique Days
APC Gene Sequence Analysis and Deletion / Duplication     10-21
APC Gene Sequence Analysis 10-21
APC Deletion / Duplication Analysis 7-14
MUTYH Gene Sequence Analysis     14-21

MUTYH Associated Polyposis
(MUTYH-2 Mutations Reflex Option to Sequence if Only 1 Mutation Found) 

 7-21

FAP PLUS Reflex Option
(APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH) 

 10-28

FAP PLUS Concurrent
(APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH 2 Mutations) 

 10-21

 

ARX-Related XLMR
Technique Days
ARX Gene Sequence Analysis 21-35

 

Ashkenazi Jewish FlexPanel™
Technique Days
Ashkenazi Jewish FlexPanel (11 conditions) 10-14
Ashkenazi Jewish FlexPanel (16 conditions) 10-14
Ashkenazi Jewish FlexPanel (Per Gene Tested) 10-14

 

ATRX-Related XLMR
Technique Days
ATRX-Related XLMR 21-35

 

Beta Thalassemia Plus (Sickle Cell Anemia, Sickle-Beta Thalassemia)
Technique Days
HBB Gene Sequence Analysis     10-21

 

Canavan AMPLIFIED
Technique Days
ASPA Gene Sequence Reflex Option Analysis and Deletion / Duplication     10-28
ASPA Gene Sequence Concurrent Analysis and Deletion / Duplication     10-21

 

CASK-Related XLMR
Technique Days
CASK Gene Sequence Analysis 21-35

 

CDKL5 (CDKL5-Related Infantile Spasms and Atypical Rett Syndrome)
Technique Days
CDKL5 Gene Sequence Analysis 10-21

 

Cerebral Cavernous Malformations (CCM)
Technique Days
CCM2 Gene Sequence Analysis 10-21
CCM2 Deletion / Duplication 7-14
KRIT1 Gene Sequence Analysis 10-21
KRIT1 Deletion / Duplication 7-21
PDCD10 Gene Sequence Analysis 10-21
PDCD10 Deletion / Duplication 7-14
Comprehensive CCM: Step 1 KRIT1 Gene Sequence,
Step 2 CCM2, PDCD10 Sequence and Deletion / Duplication for All 3 Genes (Reflex)		 10-42
Comprehensive CCM: Step 1 KRIT1 Gene Sequence,
Step 2 CCM2, PDCD10 Sequence and Deletion / Duplication for All 3 Genes (Concurrent)		 10-21
KRIT1, CCM2, PDCD10 Deletion / Duplication 7-14

 

CHARGE Syndrome
Technique Days
CHD7 Gene Sequence Analysis       10-21

 

CHEK2-Related Cancer
Technique Days
CHEK2-Related Cancer Gene Sequence 10-21
CHEK2-Related c.1100delC Founder Mutation     7-14
CHEK2-Related Sequence With Exon 9 - 10 Deletion     7-14

 

Congenital Central Hypoventilation Syndrome
Technique Days
PHOX2B Gene Sequence Analysis     10-21

 

Congenital Hyperinsulinism, KCNJ11-Related Diabetes
Technique Days
KCNJ11 Gene Sequence Analysis  10-21

 

CUL4B-Related XLMR
Technique Days
CUL4B Gene Sequence Analysis 21-35

 

Cystic Fibrosis (including 508 FIRST, CF AMPLIFIED and CF 102)
Technique Days
CFTR Gene Sequence Analysis 14-28
508 FIRST Reflex to CFTR Sequence Analysis and Deletion / Duplication     3-38
CFTR Deletion / Duplication Analysis     7-14
CFTR Sequence Analysis Reflex Option to Deletion / Duplication     21-35
CFTR Sequence Analysis Concurrent to Deletion / Duplication 14-28
CF TG Repeat (CFTR) 7-14
508 ONLYTM (CFTR) 3-7
CFTR Screening Panel (CF102)     7-14
CFTR Screening Panel (CF33)     7-14

 

Cystic Fibrosis Transmembrane Regulatory (CFTR) Gene (CF 102)
Technique Days
CFTR Screening Panel (CF102) 7-14
CFTR Screening Panel (CF33) 7-14

 

Diamond-Blackfan Anemia
Technique Days
RPS19 Related DBA (Step 1) 7-14
DBA Step1 Only 7-14
RPL5 Related DBA (Step 2) 7-14
RPL11 Related DBA (Step 2) 7-14
RPL35A Related DBA (Step 2) 7-14
RPS26 Related DBA (Step 2) 7-14
DBA Step 2 Only RPL5, RPL11, RPL35A, RPS26     14-28
RPS7 Related DBA (Step 3)     7-14
RPS17 Related DBA (Step 3) 7-14
RPS24 Related DBA (Step 3) 7-14
RPS10 Related DBA (Step 3) 7-14
DBA Step 1 and 2 Only RPS19, RPL5, RPL11, RPL35A, RPS26 14-28
DBA Step 2 and 3 Only RPL5, RPL11, RPL35A, RPS24, RPS17, RPS7, RPS26, RPS10      14-28
DBA Reflex Option All Genes, Steps 1 - 3     21-42
 DBA All Genes, Steps 1 - 3     14-28
RPL19 Related DBA 7-14
RPL26 Related DBA 7-14

 

DICER1 Syndrome
Technique Days
DICER1 Gene Sequencing Analysis 10-21

 

Dyskeratosis Congenita
Technique Days
DKC1 Gene Sequence Analysis 10-21
TINF2 Gene Sequence Analysis 7-14
TERC Gene Sequence Analysis 7-14
Step 3 Only (TERT Gene Sequence Analysis)     10-21
WRAP53 (TCAB1)- Gene Sequence Analysis     10-21
DC Steps 1-3 Reflex Option to DKC1, TINF2, TERC, NHP2, NOP10, TERT     10-49
DC Steps 1-3 Concurrent to DKC1, TINF2, TERC, NHP2, NOP10, TERT     10-28
Step 1 only (DKC1, TINF2 Exon 6, TERC)     14-21
Step 1 and Step 2 (DKC1, TINF2, TERC, NHP2, NOP10)     14-35
Step 2 only (NHP2 exon 4, NOP10 exon 2)     7-14

 

Fabry Disease
Technique Days
GLA Gene Sequence Analysis  10-14

 

Familial Hypercholesterolemia AMPLIFIED
Technique Days
LDLR Gene Sequence Analysis 10-21
LDLR Deletion / Duplication Analysis 7-14
LDLR Gene Sequence Analysis and Deletion / Duplication 14-21
APOB Partial Gene Analysis 10-21
PCSK9 Gene Sequence Analysis 10-21
ADH Autosomal Dominant Hypercholesterolemia (LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis) 14-28
FH LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis Reflex Option to LDLR Deletion / Duplication 14-35
FH Comprehensive (LDLR Gene Sequence Analysis and APOB Partial Gene Sequence Analysis Reflex Option to LDLR Deletion / Duplication and Reflex Option to PCSK9) 14-42

 

FAP Plus
Technique Days
FAP PLUS Reflex Option (APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH) 10-28
FAP PLUS Concurrent (APC Sequence Analysis and Deletion / Duplication Plus 2 Mutations MUTYH Mutations) 10-21
MUTYH Gene Sequence Analysis 14-21

 

Fragile X DNA Analysis (Fragile X FMR1 Repeat Analysis)
Technique Days
Fragile X DNA Analysis (FMR1) 7-14

 

FRAXE (FMR2) DNA Analysis
Technique Days
Fragile X DNA Analysis (FMR2)  

 

Gaucher Disease
Technique Days
GBA Gene Sequence Analysis 10-21

 

GLUD1 (Hyperinsulinism-Hyperammonemia Syndrome, Congenital Hyperinsulinism)
Technique Days
GLUD1 Gene Sequence Analysis 10-21

 

Glutaric Acidemia Type 1
Technique Days
GCDH Gene Sequence Analysis  10-21

 

Glutathione synthetase deficiency (GS)
Technique Days
GSS Gene sequence analysis 10-21

 

Glycogen Storage Disease Types 1A & 1B
Technique Days
G6PC Gene Sequence Analysis 10-21
SLC37A4 Gene Sequence Analysis 10-21

 

HAE AMPLIFIED (SERPING1)
Technique Days
SERPING1 Gene Sequence Analysis  10-21
SERPING1 Deletion/Duplication Analysis 7-14
SERPING1 Gene Sequence Analysis and Deletion/Duplication 10-21

 

Hereditary Diffuse Gastric Cancer
Technique Days
CDH1 Gene Sequence Analysis 10-21
CDH1 Deletion/Duplication Analysis 7-14
CDH1 Gene Sequence Analysis and Deletion/Duplication 10-21

 

Hereditary Thymine-Uraciluria / Dihydropyrimidine dehydrogenase deficiency (DPYD)
Technique Days
DYPD Gene Sequence Analysis 14-21

 

HHT AMPLIFIED™ & SMAD4-Related HHT
Technique Days
HHT ACVRL1, ENG Gene Sequence Analysis and Deletion / Duplication 10-21
HHT Deletion / Duplication (ACVRL1, ENG) 7-14
HHT Gene Sequence Analysis (ACVRL1, ENG) 10-21
SMAD4 Gene Sequence Analysis 10-21
ENG Gene Sequence Analysis 10-21
ACVRL1 Gene Sequence Analysis 10-21
HHT Sequence Reflex Option (ACVRL1, ENG, Deletion / Duplication, SMAD4) 14-42
HHT Sequence Concurrent (ACVRL1, ENG, Deletion / Duplication, SMAD4) 14-28
HHT Single Gene Deletion / Duplication Analysis 7-14

 

HNPCC / Lynch syndrome DNA Analysis
Technique Days
MLH1 Gene Sequence Analysis 7-21
MSH2 Gene Sequence Analysis 7-21
EPCAM Deletion / Duplication Analysis 7-14
MSH6 Gene Sequence Analysis 7-21
PMS2 Gene Sequence Analysis 14-35
PMS2 Deletion / Duplication Analysis 7-14
PMS2 Gene Sequence Analysis and Deletion / Duplication 14-35
HNPCC Reflex Option: MLH1 and MSH2 Sequence With Reflex to MSH6 Sequence and Deletion / Duplication for All Genes Including EPCAM 7-35
Step 1 (MLH1, MSH2) 7-21
Step 2 (MLH1, MSH2 Deletion / Duplication, MSH6 Sequence and EPCAM Deletion / Duplication) 7-21
MLH1 Gene Sequence Analysis and Deletion / Duplication 7-21
MSH2 Gene Sequence Analysis and Deletion / Duplication Including EPCAM 7-21
MSH6 Gene Sequence Analysis and Deletion / Duplication 7-21
HNPCC Concurrent MLH1 and MSH2 Sequence and to MSH6 Sequence and Deletion / Duplication for All Genes Including EPCAM 14-21
MMR Profile by IHC (MLH1, MSH2, MSH6, PMS2)  
MSI by PCR  
MLH1 Hypermethylation Analysis  
BRAF SMA V600E Analysis  
MLH1 Hypermethylation with BRAF (Analysis of V600E only) Analysis  
Any HNPCC Single Gene Deletion / Duplication Analysis 7-14

 

Hunter Syndrome
Technique Days
IDS Gene Sequence Analysis 10-21

 

Hurler Syndrome
Technique Days
IDUA Gene Sequence Analysis 10-21

 

Idiopathic Pulmonary Fibrosis (IPF Telomerase)
Technique Days
IPF Telomerase (TERT, TERC) 10-21

 

INS-Related Diabetes, Neonatal Diabetes (INS-Related)
Technique Days
KCNJ11 Gene Sequence Analysis            7-14
INS Gene Sequence Analysis                     7-14

 

Juvenile Polyposis AMPLIFIED™
Technique Days
SMAD4 Gene Sequence Analysis 10-21
BMPR1A Gene Sequence Analysis 10-21
BMPR1A and SMAD4 Deletion / Duplication Analysis 7-14
JPS Gene Sequence Analysis BMPR1A, SMAD4 Reflex Option to Deletion / Duplication 14-35
JPS Gene Sequence Analysis BMPR1A, SMAD4 Concurrent to Deletion / Duplication 14-28
If sequencing is informative and deletion / duplication is cancelled  
JPS Any Single Gene Deletion / Duplication 7-14

 

L1CAM-Related XLMR
Technique Days
L1CAM Gene Sequence Analysis 21-35

 

LEOPARD Syndrome
Technique Days
PTPN11 Gene Sequence Analysis 10-21

 

Li-Fraumeni Syndrome (TP53 AMPLIFIED)
Technique Days
TP53 Gene Sequence Analysis 7-21
TP53 Deletion/Duplication Analysis 7-14
TP53 Sequence and Deletion/Duplication 7-21

 

Malignant Melanoma (CDKN2A/p16)
Technique Days
CDKN2A/p16 Melanoma 10-21

 

Marfan Syndrome and Marfan-Related Disorders Next-Gen Sequencing Panel
Technique Days
Marfan Syndrome and Marfan Related Disorders Next-Gen Sequencing Panel 42-70

 

Mucolipidosis Type IV
Technique Days
MCOLN1 Gene Sequence Analysis 10-21

 

Multiple Endocrine Neoplasia Type 2 (MEN2)
Technique Days
MEN Type 1 (MEN1 Gene Sequence Analysis) 10-21
MEN Type 2 (RET Gene Sequence Analysis 10-21

 

Multiple Endocrine Neoplasia Type1 (MEN1)
Technique Days
MEN Type 1 (MEN1 Gene Sequence Analysis) 10-21
MEN Type 2 (RET Gene Sequence Analysis)  10-21

 

MUTYH-associated Polypsis (MAP)
Technique Days
MUTYH Gene Sequence Analysis 14-21
MUTYH Associated Polyposis (MUTYH-2 Mutations Reflex Option to Sequence if Only 1 Mutation Found) 7-21

 

Niemann-Pick Disease Types A & B
Technique Days
SMPD1 Gene Sequence Analysis 10-21

 

NLGN3-Related XLMR
Technique Days
NLGN3 Gene Sequence Analysis 21-35

 

NLGN4-Related XLMR
Technique Days
NLGN4 Gene Sequence Analysis 21-35

 

Noonan Syndrome and Noonan/LEOPARD Syndrome
Technique Days
PTPN11 Gene Sequence Analysis 10-21
Step 1 Only (PTPN11) 10-21
SOS1-Related Noonan Disorders 10-21
RAF1 Gene Sequence Analysis 10-21
KRAS Gene Sequence Analysis 10-21
Ambry SEQUENCE: Noonan Reflex Option (PTPN11, SOS1, RAF1, KRAS) 10-42
Ambry SEQUENCE: Noonan Concurrent (PTPN11, SOS1, RAF1, KRAS) 10-28
Step 2 Only (SOS1, Partial RAF1, KRAS) 10-28
LEOPARD Syndrome (PTPN11, partial RAF1) 10-28

 

PAH AMPLIFIED™ (Pulmonary Arterial Hypertension)
Technique Days
BMPR2 Gene Sequence and Deletion / Duplication 10-21
BMPR2 Deletion / Duplication 7-14

 

PALB2-Related Cancer
Technique Days
PALB2 Gene Sequence Analysis 14-21

 

Pancreatitis AMPLIFIED (CFTR, PRSS1, SPINK1 with CFTR del/dup)
Technique Days
Pancreatitis Panel (CFTR, PRSS1, SPINK1) 14-28
Pancreatitis Panel and CFTR Deletion / Duplication 14-35

 

Pancreatitis Panel (PRSS1, SPINK1, CFTR)
Technique Days
Pancreatitis Panel (CFTR, PRSS1, SPINK1) 14-28

 

Pancreatitis Plus Panel (CFTR, PRSS1, SPINK1, CTRC gene sequence)
Technique Days
Pancreatitis Panel Plus (CFTR, PRSS1, SPINK1, CTRC) 14-28

 

Paraganglioma-Pheochromocytoma (PGL-PCC) Syndrome Panel
Technique Days
PGL-PCC Panel MLPA (SDHB, SDHC, SDHD, SDHAF2) 7-14
PGL-PCC Panel Plus MLPA (SDHB, SDHC, SDHD, SDHAF2, TMEM127) 10-21

 

PCD 61™
Technique Days
PCD 61 (DNAH5 and DNAI1 Mutation Panel) 7-21

 

Peutz-Jeghers AMPLIFIED™
Technique Days
STK11 Gene Sequence Analysis 10-21
STK11 Deletion/Duplication Analysis 7-14
STK11 Sequencing and Deletion / Duplication 10-21

 

Phenylketonuria-PKU
Technique Days
PAH Gene Sequence Analysis 10-21

 

Pompe Disease
Technique Days
GAA Gene Sequence Analysis 10-21

 

PQBP1-Related XLMR
Technique Days
PQBP1-Related XLMR 21-35

 

Prader-Willi Syndrome SNRPN Methylation Analysis
Technique Days
UBE3A Gene Sequence Analysis 14-21
Angelman Syndrome, X-Linked SLC9A6 14-21
SNRPN Methylation 7-14
Angelman Syndrome SNRPN and UBE3A  

 

Primary Ciliary Dyskinesia Next-Gen Sequencing Panel (includes CFTR)
Technique Days
PCD Panel 42-70

 

PTEN-Related Disorders (including Autism Spectrum Disorder)
Technique Days
PTEN Gene Sequence Analysis 7-21
PTEN Deletion / Duplication Only 7-14
PTEN Sequencing and Deletion / Duplication 7-21

 

RET-Related Hirschsprung Disease
Technique Days
RET Gene Sequence Analysis Reflex Option 7-28
RET Gene Sequence Analysis Concurrent 10-21
RET Partial Sequence Analysis - Step 1 only 7-14

 

Retinoblastoma
Technique Days
Retinoblastoma (RB1) Sequencing 10-21

 

Rett Syndrome
Technique Days

MECP2 Gene Sequence Analysis		 10-21

MECP2 Deletion / Duplication		 7-14

MECP2 Gene Sequence and Deletion / Duplication		 10-21
CDKL5 Gene Sequence Analysis 10-21
Rett Syndrome Steps 1-3 Concurrent (CDKL5 and MECP2, With MECP2 Deletion / Duplication) 10-21
Rett Syndrome Steps 1-3. (MECP2 Sequence Reflex Option to MECP2 Deletion / Duplication Reflex Option to CDKL5 Sequence) 10-42

 

Rett Syndrome, Typical and Atypical
Technique Days
MECP2 Gene Sequence Analysis 10-21
MECP2 Deletion / Duplication 7-14
MECP2 Gene Sequence and Deletion / Duplication 10-21
CDKL5 Gene Sequence Analysis 10-21
Rett Syndrome Steps 1-3 Concurrent (CDKL5 and MECP2, With MECP2 Deletion / Duplication) 10-21
Rett Syndrome Steps 1-3. (MECP2 Sequence Reflex Option to MECP2 Deletion / Duplication Reflex Option to CDKL5 Sequence) 10-42

 

Shwachman-Diamond Syndrome
Technique Days
SBDS Gene Sequence Analysis 10-21

 

SLC16A2-Related XLMR
Technique Days
SLC16A2 Gene Sequence Analysis 21-35

 

Smith-Lemli-Opitz Syndrome (SLOS)
Technique Days
DHCR7 Gene Sequence Analysis 10-21

 

Surfactant Dysfunction
Technique Days
SFTPB Gene Sequence Analysis 5-10
SFTPC Gene Sequence Analysis 5-10
Surfactant Panel (ABCA3, SFTPB, SFTPC) 5-14

 

Surfactant Panel (SFTPB, SFTPC, ABCA3)
Technique Days
Surfactant Panel (ABCA3, SFTPB, SFTPC) 5-14

 

SYP-Related XLMR
Technique Days
SYP Gene Sequence Analysis 21-35

 

Tay-Sachs Plus
Technique Days
Tay-Sachs Plus (HEXA gene sequence) 10-21
Tay-Sachs Enzyme (HEXA Leukocyctes)  

 

Thrombophilia FlexPanel
Technique Days
Thrombophilia Mutation Panel 7-14
Factor II Mutation Panel 7-14
Factor V Leiden Mutation Panel 7-14
MTHFR Mutation Panel 7-14

 

Thrombophilia FlexPanel (Factor II-Prothrombin G20210A, Factor V-Leiden, MTHFR-C677T, MTHFR-A1298C)
Technique Days
Thrombophilia Mutation Panel 7-14
Factor II Mutation Panel  7-14
Factor V Leiden Mutation Panel 7-14
MTHFR Mutation Panel 7-14

 

Transthyretin Amyloidosis
Technique Days
TTR Gene Sequence Analysis 10-21

 

UPF3B-Related XLMR
Technique Days
UPF3B-Related XLMR 21-35

 

Von Hippel-Lindau Disease
Technique Days
VHL Gene Sequence Analysis 7-21
VHL Deletion / Duplication Analysis 7-14
VHL Sequencing and Deletion / Duplication 7-21

 

Wilson Disease
Technique Days
ATP7B Gene Sequence Analysis 10-21

 

XLMR 180K Oligo ArrayPlus
Technique Days
XLMR Evaluation (CMA: 180K Oligo Array, XLMR SuperPanelTM) 10-112

 

XLMR Next-Gen SuperPanel
Technique Days
XLMR Next-Gen SuperPanel 84-112

 

XLMR/Intellectual Disabilities Evaluation
Technique Days
XLMR Evaluation (CMA: 180K Oligo Array, XLMR SuperPanel) 10-112

 

ZNF711-Related XLMR
Technique Days
ZNF711 Gene Sequence Analysis 21-35

 

ZNF81-Related XLMR
Technique Days
ZNF81-Related XLMR 21-35