The Comprehensive
Hematologic Malignancy
Sequencing Panel is
designed to identify
clinically relevant DNA
mutations for the
diagnosis, prognosis, and
treatment of patients with
acute myeloid leukemia,
acute lymphoblastic
leukemia, myelodysplastic
syndrome,
myeloproliferative
neoplasm, lymphoma and
other hematologic
malignancies. The
appropriate panel should
be selected. NovaSeq high
throughput targeted
sequencing technology is
used to identify mutations
within the following 221
genes:
Comprehensive
Hematologic Malignancy
Sequencing Panel
includes:
Performing Laboratory / Facility
UCLA Molecular
Diagnostics Laboratories
(MDL)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
10-15 days from receipt of
specimen in performing
lab.
Methodology
The Comprehensive
Hematologic Malignancy
Sequencing Panel is a
next-generation
sequencing (NGS) test
performed on DNA
extracted from blood or
bone marrow aspirate to
detect DNA mutations in
the 221 targeted genes.
Target sequences are
enriched using the capture
method and sequenced on
the NovaSeq 6000
sequencer (Illumina Inc.). This assay involves
sequencing of the entire
coding regions of the
targeted genes, except for
TERC.
Alternate methodologies
may be used to detect
specific DNA mutations in
certain genes, such as
FLT3, when definitive
results for the genes
cannot always be
determined via NGS.
Variants which are thought
to be clinically significant
based on existing
knowledge as well as
variant of uncertain
significance (VUS) of
probable somatic origin
will be reported.
Limitations
This test has been
validated by the UCLA
Molecular Diagnostics
Laboratories. This assay
can detect variants with an
approximate mutant allele
frequency (VAF) of 2%. A
negative (no mutation
detected) result does not
rule out the presence of
clinically relevant DNA
mutations, as results
depend on various factors.
These include, but not
limited to, mutant allele
frequency, specimen
integrity, presence of
inhibitors, and/or interfering polymorphisms,
availability of sufficient
high-quality DNA, the
genomic location of the
mutations, and the current
understanding of the
clinical impact of the
variants at the time of
testing.
Specimen Type
Whole blood
Bone marrow
Extracted DNA
Container
Lavender/EDTA
Collection Instructions
Shared tubes, such as CBC
tubes, are not acceptable
specimens due to risk of
cross-contamination. Send
whole blood to the Laboratory at ambient temperature or
refrigerated. Do not freeze.
Volume
Whole blood – 4 mL
Bone marrow – 4 mL
Extracted DNA – 200ng
Minimum Volume
Whole blood – <1 mL, if
sufficient DNA is extracted
from the blood
Bone marrow – <1 mL, if
sufficient DNA is extracted
from the bone marrow
The Comprehensive
Hematologic Malignancy
Sequencing Panel is
designed to identify
clinically relevant DNA
mutations for the
diagnosis, prognosis, and
treatment of patients with
acute myeloid leukemia,
acute lymphoblastic
leukemia, myelodysplastic
syndrome,
myeloproliferative
neoplasm, lymphoma and
other hematologic
malignancies. The
appropriate panel should
be selected. NovaSeq high
throughput targeted
sequencing technology is
used to identify mutations
within the following 221
genes:
Comprehensive
Hematologic Malignancy
Sequencing Panel
includes:
Performing Laboratory / Facility
UCLA Molecular
Diagnostics Laboratories
(MDL)
Performing Section
Molecular Pathology
Availability
Monday through Friday, 0700-1700
Turnaround Time
10-15 days from receipt of
specimen in performing
lab.
Methodology
The Comprehensive
Hematologic Malignancy
Sequencing Panel is a
next-generation
sequencing (NGS) test
performed on DNA
extracted from blood or
bone marrow aspirate to
detect DNA mutations in
the 221 targeted genes.
Target sequences are
enriched using the capture
method and sequenced on
the NovaSeq 6000
sequencer (Illumina Inc.). This assay involves
sequencing of the entire
coding regions of the
targeted genes, except for
TERC.
Alternate methodologies
may be used to detect
specific DNA mutations in
certain genes, such as
FLT3, when definitive
results for the genes
cannot always be
determined via NGS.
Variants which are thought
to be clinically significant
based on existing
knowledge as well as
variant of uncertain
significance (VUS) of
probable somatic origin
will be reported.
Limitations
This test has been
validated by the UCLA
Molecular Diagnostics
Laboratories. This assay
can detect variants with an
approximate mutant allele
frequency (VAF) of 2%. A
negative (no mutation
detected) result does not
rule out the presence of
clinically relevant DNA
mutations, as results
depend on various factors.
These include, but not
limited to, mutant allele
frequency, specimen
integrity, presence of
inhibitors, and/or interfering polymorphisms,
availability of sufficient
high-quality DNA, the
genomic location of the
mutations, and the current
understanding of the
clinical impact of the
variants at the time of
testing.
Specimen Collection and Handling
Specimen Type
Whole blood
Bone marrow
Extracted DNA
Container
Lavender/EDTA
Collection Instructions
Shared tubes, such as CBC
tubes, are not acceptable
specimens due to risk of
cross-contamination. Send
whole blood to the Laboratory at ambient temperature or
refrigerated. Do not freeze.
Volume
Whole blood – 4 mL
Bone marrow – 4 mL
Extracted DNA – 200ng
Minimum Volume
Whole blood – <1 mL, if
sufficient DNA is extracted
from the blood
Bone marrow – <1 mL, if
sufficient DNA is extracted
from the bone marrow
